Alphabetical Order

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Amniotic Fluid, CVS material, Cord Blood	See Description	See Description	18-24 °C

Descriptions
Sample Type	Cover / Tube	Sample Volume
Cordon BloodHEPARİN	Heparine Injector	2-5 mL
Skin Biopsy Sample	Sterile Hood, Transport Medium	1 cm⊃3; skin part
Amniotic Fluid	Injector, Greiner Tube	20 mL
CVS Material	Transport Medium	20-30 mg
Abort Material	Sterile Hood, Transport Medium	1 cm⊃3; skin part
Bone MarrowHEPARİN	Heparine Tube	1-2 ml
Fresh Tumor Section, Paraffin Block	Paraffin Block	3 mikron

Acid Beta Glucosidase Deficiency (Gaucher's Disease-Glucoserebrozidase Deficiency), GBA Gene Analysis

Test Code: 715050 Genetik Tanı Testleri - Gen: GBA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Acral Peeling Skin Syndrome, TGM5 Gene Analysis

Test Code: 716390 Genetik Tanı Testleri - Gen: TGM5

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Acute Intermittent Porphyria, HMBS Gene Analysis

Test Code: 714960 Genetik Tanı Testleri - Gen: HMBS

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Acute Myeloid Leukaemia (AML) CEBPA Gene Analysis

Test Code: 711200 Genetik Tanı Testleri - Gen: CEBPA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Acute Myeloid Leukaemia (AML) NPM1 Exon 12 Gene Analysis

Test Code: 711210 Genetik Tanı Testleri - Gen: NPM1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Adenosine Phosphoribosyl Transferase Deficiency, APRT Gene Analysis

Test Code: 714930 Genetik Tanı Testleri - Gen: APRT

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Adenylosuccinase Deficiency, ADSL Gene Analysis

Test Code: 714920 Genetik Tanı Testleri - Gen: ADSL

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Ailesel Fruktoz İntoleransı (Aldolaz B)

Test Code: 711100 Genetik Tanı Testleri - Gen: ALDOB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
KanEDTA	Mor kapaklı tüp	2-5 ml	18-24 °C

Alexander's Disease

Test Code: 713670 Genetik Tanı Testleri - Gen: GFAP

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Alfa Ketoglutarate Dehydrogenase Deficiency, OGDH Gene Analysis

Test Code: 714980 Genetik Tanı Testleri - Gen: OGDH

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Alfa Thalassemia HBA1, HBA2, Prenatal

Test Code: 711230 Genetik Tanı Testleri - Gen: HBA1, HBA2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
Amniotic Fluid, CVS material, Cord Blood	See Description	See Description	18-24 °C

Alkaptonuria Gene Analysis

Test Code: 712940 Genetik Tanı Testleri - Gen: HGD

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Alkaptonuria, HGD Gene Analysis

Test Code: 714990 Genetik Tanı Testleri - Gen: HGD

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Alpers Huttenlocher Syndrome, mtDNA Analysis

Test Code: 714520 Genetik Tanı Testleri - Gen:

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Alpha - Methyl acetoacetic Aciduria (Beta Ketothiolase Deficiency), ACAT1 Gene Analysis

Test Code: 714970 Genetik Tanı Testleri - Gen: ACAT1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Alpha 1 Antitrypsin Deficiency

Test Code: 711260 Genetik Tanı Testleri - Gen: SERPINA1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Alpha Thalassemia HBA1, HBA2 Gene Analysis

Test Code: 711220 Genetik Tanı Testleri - Gen: HBA1, HBA2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Alpha Thalassemia HBA1, HBA2 Genetic Deletion, Duplication Analysis

Test Code: 711240 Genetik Tanı Testleri - Gen: HBA1, HBA2

Method : MLPA / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Alpha Thalassemia HBA1, HBA2 Genetic Deletion, Duplication Analysis, Prenatal

Test Code: 711250 Genetik Tanı Testleri - Gen: HBA1, HBA2

Method : MLPA / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
Amniotic Fluid, CVS material, Cord Blood	See Description	See Description	18-24 °C

ALS (Amyotrophic Lateral Sclerosis) C9orf72, SOD1, TARDBP, FUS (WES Analysis)

Test Code: 714750 Genetik Tanı Testleri - Gen: C9orf72, SOD1, TARDBP, FUS

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Alzheimer's Disease Type 3

Test Code: 713630 Genetik Tanı Testleri - Gen: PSEN1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Alzheimer's Disease Type 4

Test Code: 713640 Genetik Tanı Testleri - Gen: PSEN2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

AML Gene Analysis Associated with Down Syndrome

Test Code: 711790 Genetik Tanı Testleri - Gen: GATA1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Analbuminuria ALB Gene Analysis

Test Code: 714120 Genetik Tanı Testleri - Gen: ALB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Angiotensin-ACE ins/del (ID) Polymorphism Analysis

Test Code: 711270 Genetik Tanı Testleri - Gen: ACE

Method : Real Time PCR / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Ankylosing Spondylitis HLA B27 Analysis

Test Code: 711280 Genetik Tanı Testleri - Gen: HLA-B27

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Antithrombin 3 Deficiency

Test Code: 712950 Genetik Tanı Testleri - Gen: SERPINC

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Apo B Target Mutation Analysis

Test Code: 711290 Genetik Tanı Testleri - Gen: Apo B

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Apo E Gene Genotype Analysis

Test Code: 711300 Genetik Tanı Testleri - Gen: Apo E

Method : Real Time PCR / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Apolipoprotein C2 Deficiency, Hyperlipoproteinemia 1B,

Test Code: 716060 Genetik Tanı Testleri - Gen:

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Argininemi, ARG1 Gene Analysis

Test Code: 715000 Genetik Tanı Testleri - Gen: ARG1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Argininosuccinic Aciduria, ASL Gene Analysis

Test Code: 715020 Genetik Tanı Testleri - Gen: ASL

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Arginosuccinate Synthetase Deficiency, ASS1 Gene Analysis

Test Code: 715010 Genetik Tanı Testleri - Gen: ASS1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

ARHGDIA Gene Mutations

Test Code: 713930 Genetik Tanı Testleri - Gen: ARHGDIA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Aryl Sulfatase B Deficiency (MPS Type 6), ARSB Gene Analysis

Test Code: 715040 Genetik Tanı Testleri - Gen: ARSB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Ataxia Ocular Apraxia, Type 1, APTX Gene Analysis

Test Code: 714430 Genetik Tanı Testleri - Gen: APTX

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Ataxia Ocular Apraxia, Type 2 (Oculomotor Apraxia Type 1) SETX Gene Analysis

Test Code: 714440 Genetik Tanı Testleri - Gen: SETX

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Ataxia Telangiectasias

Test Code: 711310 Genetik Tanı Testleri - Gen: ATM

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Atypical Haemolytic Uremic Syndrome CFH Gene Analysis

Test Code: 714100 Genetik Tanı Testleri - Gen: CFH

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Atypical Haemolytic Uremic Syndrome MCP / CD46 Gene Analysis

Test Code: 714110 Genetik Tanı Testleri - Gen: MCP/CD46

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Autoimmune Polyendocrinopathy Syndrome Type 1

Test Code: 713820 Genetik Tanı Testleri - Gen: AIRE

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Autosomal Dominant Familial Hypophosphatemic Rickets Gene Analysis

Test Code: 713340 Genetik Tanı Testleri - Gen: FGF23

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Autosomal Dominant Hypocalcaemia CASR Gene Analysis

Test Code: 714080 Genetik Tanı Testleri - Gen: CASR

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Autosomal Dominant Hypokalaemia GNA11 Gene Analysis

Test Code: 716290 Genetik Tanı Testleri - Gen: GNA11

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Autosomal Dominant Isolated Magnesuria FXYD2 Gene Analysis

Test Code: 714060 Genetik Tanı Testleri - Gen: FXYD2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Autosomal Dominant Osteopetrosis, CLCN7 Gene Analysis

Test Code: 716300 Genetik Tanı Testleri - Gen: CLCN7

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Autosomal Dominant Periodic Fever (TRAPS) Gene Analysis

Test Code: 712530 Genetik Tanı Testleri - Gen: TNFRSF1A

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Autosomal Recessive Familial Hypophosphatemic Rickets Gene Analysis

Test Code: 713330 Genetik Tanı Testleri - Gen: DMP1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Autosomal recessive isolated magnesuria EGF Gene Analysis

Test Code: 714070 Genetik Tanı Testleri - Gen: EGF

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Bart-Pumphrey Syndrome, GJB2 Gene Analysis

Test Code: 716410 Genetik Tanı Testleri - Gen: GJB2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Bartter Syndrome Type 1 (SLC12A1) Gene Analysis

Test Code: 713940 Genetik Tanı Testleri - Gen: SLC12A1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Bartter Syndrome Type 2 (KCNJ1) Gene Analysis

Test Code: 713950 Genetik Tanı Testleri - Gen: KCNJ1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Bartter Syndrome Type 3 (CLCNKB) Gene Analysis

Test Code: 713960 Genetik Tanı Testleri - Gen: CLCNKB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Bartter Syndrome Type 4 (BSND) Gene Analysis

Test Code: 713970 Genetik Tanı Testleri - Gen: BSND

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Bartter Syndrome Type 5 (CASR) Gene Analysis

Test Code: 713980 Genetik Tanı Testleri - Gen: CASR

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Bartter Syndrome Type 6 (4b) (CLCNKA / B)

Test Code: 713990 Genetik Tanı Testleri - Gen: CLCNKA/B

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Beckwith-Wiedemann Syndrome, CDKN1C Gene Analysis

Test Code: 715850 Genetik Tanı Testleri - Gen: CDKN1C

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Beckwith-Wiedemann Syndrome, Methylation Analysis

Test Code: 715860 Genetik Tanı Testleri - Gen: CDKN1C

Method : MLPA / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Behcet's Disease, HLA Analysis

Test Code: 711320 Genetik Tanı Testleri - Gen: HLA B5

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Beta Thalassemia (Familial Mediterranean Anaemia) HBB Gene Analysis

Test Code: 711330 Genetik Tanı Testleri - Gen: HBB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Beta Thalassemia (Familial Mediterranean Anaemia) HBV Gene Analysis, Prenatal

Test Code: 711340 Genetik Tanı Testleri - Gen: HBB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
Amniotic Fluid, CVS material, Cord Blood	See Description	See Description	18-24 °C

Biotinidase Deficiency Gene Analysis

Test Code: 713260 Genetik Tanı Testleri - Gen: BTD

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Birt-Hogg-Dubé Syndrome, FLCN Gene Analysis

Test Code: 716420 Genetik Tanı Testleri - Gen: FLCN

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Blau Syndrome NOD2 Gene Analysis

Test Code: 714190 Genetik Tanı Testleri - Gen: NOD2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

BRAF Gene Analysis

Test Code: 711380 Genetik Tanı Testleri - Gen: BRAF

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Branchio - Oculo - Facial Syndrome, TFAP2A Gene Analysis

Test Code: 715870 Genetik Tanı Testleri - Gen: TFAP2A

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

BRCA1

Test Code: 8392130 Genetik Tanı Testleri - Gen: APC, MUTYH OMIM:236548

Method: NGS Next Generation Reconditioning Study Day: Every Day Reporting Time: 30 Days
Sample Name	Tube	Quantity	Transport
Blood^EDTA	Purple Covered Tube	3-5 ml	18-24ﾟC
* Genetic confirmation form should be filled in for this test. * This test is approved.
Additional information
hanifi

AKREDİTE

BRCA1 / BRCA2 Genetic Deletion Duplication Analysis

Test Code: 711410 Genetik Tanı Testleri - Gen: BRCA1, BRCA2

Method : MLPA / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

BRCA2 Gene Analysis

Test Code: 711400 Genetik Tanı Testleri - Gen: BRCA1/BRCA2

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

C1q Complement Deficiency Gene Analysis

Test Code: 713430 Genetik Tanı Testleri - Gen: C1QA, C1QB, C1QC

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Cadasil Disease Selected Exon Analysis

Test Code: 711420 Genetik Tanı Testleri - Gen: NOTCH3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

CALR Gene Mutation Analysis in Myeloproliferative Diseases

Test Code: 712320 Genetik Tanı Testleri - Gen: CALR

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Canavan Disease

Test Code: 711430 Genetik Tanı Testleri - Gen: ASPA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Carbamoyl Phosphate Synthetase Type 1 Deficiency, CPS1 Gene Analysis

Test Code: 715420 Genetik Tanı Testleri - Gen: CPS1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Carbonic Anhydrase 5A Deficiency CA5A Gene Analysis

Test Code: 714150 Genetik Tanı Testleri - Gen: CA5A

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Cardiovascular Risk Panel

Test Code: 712000 Genetik Tanı Testleri - Gen:

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Carnitine Palmitoyl Transferase (CPT II) Deficiency, Hepatic, CPT2 Gene Analysis

Test Code: 715430 Genetik Tanı Testleri - Gen: CPT2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Carpenter Syndrome, RAB23 Gene Analysis

Test Code: 715890 Genetik Tanı Testleri - Gen: RAB23

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

CDKN2A Gene Analysis

Test Code: 711450 Genetik Tanı Testleri - Gen: CDKN2A

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Celiac Disease, HLA Genotype Analysis (HLA-DQ2 and HLA-DQ8)

Test Code: 711510 Genetik Tanı Testleri - Gen: HLA-DQ

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Central (neurohypophysial) Diabetes Insipidus AVP Gene Analysis

Test Code: 714030 Genetik Tanı Testleri - Gen: AVP

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Centronuclear Myopathy, DNM2, BIN1, TTN (WES Analysis)

Test Code: 714570 Genetik Tanı Testleri - Gen: DNM2, BIN1, TTN

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Cerebral Creatinine Deficiency Syndrome Type 2, GAMT Gene Analysis

Test Code: 715700 Genetik Tanı Testleri - Gen: GAMT

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Cerebralendinous Xanthomatosis, CYP27A1 Gene Analysis

Test Code: 715710 Genetik Tanı Testleri - Gen: CYP27A1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 1A Deletion, Duplication Analysis

Test Code: 711460 Genetik Tanı Testleri - Gen: PMP22

Method : MLPA / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 1B Gene Analysis

Test Code: 711480 Genetik Tanı Testleri - Gen: MPZ

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 1C, LITAF Gene Analysis

Test Code: 714580 Genetik Tanı Testleri - Gen: LITAF

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 1D, EGR2 Gene Analysis

Test Code: 714590 Genetik Tanı Testleri - Gen: EGR2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 1E Gene Analysis

Test Code: 711490 Genetik Tanı Testleri - Gen: PMP22

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 1F NEFL Gene Analysis

Test Code: 714600 Genetik Tanı Testleri - Gen: NEFL

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 2, DNM2 Gene Analysis

Test Code: 714860 Genetik Tanı Testleri - Gen: DNM2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 2A, MFN2, KIF1B, WES Analysis

Test Code: 714610 Genetik Tanı Testleri - Gen: MFN2,KIF1B

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 2B, RAB7A Gene Analysis

Test Code: 714620 Genetik Tanı Testleri - Gen: RAB7A

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 2B1, LMNA Gene Analysis

Test Code: 714830 Genetik Tanı Testleri - Gen: LMNA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 2C, TRPV4 Gene Analysis

Test Code: 714630 Genetik Tanı Testleri - Gen: TRPV4

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 2D BSCL2 Gene Analysis

Test Code: 714640 Genetik Tanı Testleri - Gen: BSCL2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 2E NEFL Gene Analysis

Test Code: 714840 Genetik Tanı Testleri - Gen: NEFL

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 2I, 2J Gene Analysis

Test Code: 714850 Genetik Tanı Testleri - Gen: MPZ

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 2K, GDAP1 Gene Analysis

Test Code: 714650 Genetik Tanı Testleri - Gen: GDAP1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 2L, HSP88 Gene Analysis

Test Code: 714660 Genetik Tanı Testleri - Gen: HSP88

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 4A, GDAP1 Gene Analysis

Test Code: 714870 Genetik Tanı Testleri - Gen: GDAP1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 4B1, MTMR2 Gene Analysis

Test Code: 714670 Genetik Tanı Testleri - Gen: MTMR2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 4B2, SBF2 Gene Analysis

Test Code: 714680 Genetik Tanı Testleri - Gen: SBF2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 4C, SH3TC2 Gene Analysis

Test Code: 714690 Genetik Tanı Testleri - Gen: SH3TC2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 4D, NDRG1 Gene Analysis

Test Code: 714700 Genetik Tanı Testleri - Gen:

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 4E, EGR2 Gene Analysis

Test Code: 714880 Genetik Tanı Testleri - Gen: EGR2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 4F, PRX Gene Analysis

Test Code: 714710 Genetik Tanı Testleri - Gen: PRX

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 4H, FGD4 Gene Analysis

Test Code: 714720 Genetik Tanı Testleri - Gen: FGD4

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth Type 4J, FIG 4 Gene Analysis

Test Code: 714730 Genetik Tanı Testleri - Gen: FIG4

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth X-dependent Dominant Type Gene Analysis

Test Code: 711470 Genetik Tanı Testleri - Gen: GJB1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Charcot Marie Tooth X-linked Type 5 (CMTX5) PRPS1 Gene Analysis

Test Code: 714740 Genetik Tanı Testleri - Gen: PRPS1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

CHILD Syndrome, NSDHL Gene Analysis

Test Code: 716430 Genetik Tanı Testleri - Gen: NSDHL

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Cholesterol Ester Depot Disease (Wolman's Disease), LIPA Gene Analysis

Test Code: 715450 Genetik Tanı Testleri - Gen: LIPA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Chromosome Analysis; Abort Material

Test Code: 731100 Genetik Tanı Testleri - Gen:

Method : Long-term Cell Culture / Working Days: Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
Abort Material	See Description	See Description	18-24 °C

Chromosome Analysis; Amnion Fluid

Test Code: 731110 Genetik Tanı Testleri - Gen:

Method : Long-term Cell Culture / Working Days: Everyday / Report Duration : 21 Days
Sample Name	Tube	Quantity	Transport
Amniotic Fluid	See Description	See Description	18-24 °C

Chromosome Analysis; Bone marrow

Test Code: 721110 Genetik Tanı Testleri - Gen:

Method :Short-term Cell Culture / Working Days: Everyday / Report Duration : 15 Days
Sample Name	Tube	Quantity	Transport
Bone MarrowHeparin	See Description	See Description	18-24 °C

Chromosome Analysis; Chorionic villus sampling (CVS)

Test Code: 731130 Genetik Tanı Testleri - Gen:

Method : Long-term Cell Culture / Working Days: Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
CVS Material	See Description	See Description	18-24 °C

Chromosome Analysis; Fetal Blood (Cordon Sampling)

Test Code: 731120 Genetik Tanı Testleri - Gen:

Method :Short-term Cell Culture / Working Days: Everyday / Report Duration : 15 Days
Sample Name	Tube	Quantity	Transport
Cord Blood	See Description	See Description	18-24 °C

Chromosome Analysis; Hemato-oncological (Peripheral Blood)

Test Code: 721100 Genetik Tanı Testleri - Gen:

Method :Short-term Cell Culture / Working Days: Everyday / Report Duration : 15 Days
Sample Name	Tube	Quantity	Transport
Blood Heparin	Heparinized tube	See Description	18-24 °C

Chromosome Analysis; Peripheral Blood

Test Code: 721120 Genetik Tanı Testleri - Gen:

Method :Short-term Cell Culture / Working Days: Everyday / Report Duration : 15 Days
Sample Name	Tube	Quantity	Transport
Blood Heparin	Heparinized tube	2-5 mL	18-24 °C

Chromosome Analysis; Solid Tissue (Skin Tissue etc.)

Test Code: 721130 Genetik Tanı Testleri - Gen:

Method : Long-term Cell Culture / Working Days: Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
Skin biopsy specimens	See Description	See Description	18-24 °C

Chronic Eosinophilic Leukaemia Selected Exon Analysis

Test Code: 712560 Genetik Tanı Testleri - Gen: PDGFRA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Citrulinaemia Type 1 - Classical citrulinaemia, ASS1 Gene Analysis

Test Code: 715730 Genetik Tanı Testleri - Gen: ASS1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

CLN Disease Type 1 (Neuronal Ceroid-Lipofuscinoses 1)

Test Code: 712350 Genetik Tanı Testleri - Gen: PPT1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

CLN Disease Type 2 (Neuronal Ceroid-Lipofuscinoses 2)

Test Code: 712360 Genetik Tanı Testleri - Gen: TPP1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

CLN Disease Type 3 (Neuronal Ceroid-Lipofuscinoses 3)

Test Code: 712370 Genetik Tanı Testleri - Gen: CLN3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

CLN Disease Type 4 (Neuronal Ceroid-Lipofuscinoses 3)

Test Code: 714260 Genetik Tanı Testleri - Gen: DNAJC5

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Cockayne Syndrome, ERCC Gene Analysis

Test Code: 715900 Genetik Tanı Testleri - Gen: ERCC

Method:Consult To The Laboratory/Working Days:Everyday/ Report Duration: 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Cohen Syndrome, VPS13B Gene Analysis (WES)

Test Code: 715910 Genetik Tanı Testleri - Gen: VPS13B

Method:Consult To The Laboratory/Working Days:Everyday/ Report Duration: 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Colorectal Cancer Liquid Biopsy Panel

Test Code: 713490 Genetik Tanı Testleri - Gen: EGFR, BRAF, KRAS, TP53, PTEN, HRAS, SMAD4, ATM, APC, NRAS, PIK3CA, ERBB2, AKT1

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Colorectal Cancer Panel

Test Code: 713500 Genetik Tanı Testleri - Gen: MLH1, MLH3, MSH2, MSH6, PMS1, PMS2, KRAS, EGFR, PIK3CA, BRAF, APC, P53, BMPR1A, MUTYH, PTEN, SMAD4, STK11, EPCAM

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Combined Hypophyseal Hormone Deficiency Type 1 Gene Analysis

Test Code: 712990 Genetik Tanı Testleri - Gen: POU1F1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Combined Hypophyseal Hormone Deficiency Type 2 Gene Analysis

Test Code: 713000 Genetik Tanı Testleri - Gen: PROP1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Combined Oxidative Phosphorylation Deficiency Type 12, EARS2 Gene Analysis

Test Code: 715460 Genetik Tanı Testleri - Gen: EARS2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Combined Pituitary Hormone Deficiency, HESX1 Gene Analysis

Test Code: 716220 Genetik Tanı Testleri - Gen: HESX1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Congenital Adrenal Hyperplasia 11- Beta Hydroxylase Deficiency Gene Analysis

Test Code: 713300 Genetik Tanı Testleri - Gen: CYP11B1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Congenital Adrenal Hyperplasia 17- Alpha Hydroxylase Incomplete Gene Analysis

Test Code: 713310 Genetik Tanı Testleri - Gen: CYP17A1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Congenital Adrenal Hyperplasia 3-Beta Hydroxysteroid Dehydrogenase Deficiency HSD3B2, Gene Analysis

Test Code: 716230 Genetik Tanı Testleri - Gen: HSD3B2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Congenital Adrenal Hyperplasia Gene Analysis- 21 hydroxylase deficiency

Test Code: 712040 Genetik Tanı Testleri - Gen: CYP21A2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Congenital Adrenal Hyperplasia Gene Deletion Duplication Analysis-21 hydroxylase deficiency

Test Code: 712050 Genetik Tanı Testleri - Gen: CYP21A2

Method : MLPA / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Congenital Central Hypoventilation Syndrome Gene Analysis

Test Code: 712570 Genetik Tanı Testleri - Gen: PHOX2B

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Congenital Deafness Gene Analysis

Test Code: 712080 Genetik Tanı Testleri - Gen: Connexin 26 (GJB2)

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Congenital Diserthropoietic Anaemia

Test Code: 711440 Genetik Tanı Testleri - Gen: CDAN1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Congenital Glycosylation Disorder Type 1a (Cdg1a)

Test Code: 713790 Genetik Tanı Testleri - Gen: PMM2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Congenital Ichthyosis Panel

Test Code: 713170 Genetik Tanı Testleri - Gen: WES

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Congenital Lipoid Adrenal Hyperplasia, STAR Gene Analysis

Test Code: 716240 Genetik Tanı Testleri - Gen: STAR

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Congenital Nephrotic Syndrome Gene Analyses

Test Code: 713850 Genetik Tanı Testleri - Gen:

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Congenital Neutropenia Gene Analysis

Test Code: 712060 Genetik Tanı Testleri - Gen: ELANE (ELA2)

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Congenital Neutropenia Type 3 Gene Analysis

Test Code: 712070 Genetik Tanı Testleri - Gen: HAX1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Costello Syndrome

Test Code: 711500 Genetik Tanı Testleri - Gen: HRAS

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Creatinine Deficiency Syndrome, X-linked, SLC6A8 Gene Analysis

Test Code: 715470 Genetik Tanı Testleri - Gen: SLC6A8

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Cutis Laksa Panel

Test Code: 713190 Genetik Tanı Testleri - Gen: WES

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

cyctic fibrosis

Test Code: 8392130 Genetik Tanı Testleri - Gen: APC, MUTYH

Method: NGS Next Generation Reconditioning Study Day: Every Day Reporting Time: 30 Days
Sample Name	Tube	Quantity	Transport
Blood^EDTA	Purple Covered Tube	3-5 ml	18-24ﾟC
* Genetic confirmation form should be filled in for this test. * This test is approved.
Additional information
Mutations in two distinct loci causing autosomal dominant inheritance and classical and attenuated familial adenomatous polyposis (OMIM # 175100, 608456) are screened by sequence analysis.

Cystic Fibrosis Deletion Duplication Analysis

Test Code: 712030 Genetik Tanı Testleri - Gen: CFTR

Method : MLPA / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Cystic Fibrosis Gene Analysis

Test Code: 712010 Genetik Tanı Testleri - Gen: CFTR

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Cystic Fibrosis Gene Analysis, Prenatal

Test Code: 712020 Genetik Tanı Testleri - Gen: CFTR

Yöntem : NGS /Çalışma Günü: Her Gün/Raporlama Tarihi: 45 Gün
Örnek Adı	Kap	Miktar	Taşıma
Amniotic Fluid, CVS material, Cord Blood	Açıklamaya Bakınız	Açıklamaya Bakınız	18-24 °C

Cystinuria, SLC3A1 Gene Analysis

Test Code: 715720 Genetik Tanı Testleri - Gen: SLC3A1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

D - 2 - Hydroxyglutaric Aciduria Type 1, D2HGDH Gene Analysis

Test Code: 715060 Genetik Tanı Testleri - Gen: D2HGDH

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Darier's Disease, ATP2A2 Gene Analysis

Test Code: 716440 Genetik Tanı Testleri - Gen: ATP2A2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

DEB TEST-FANCON ANEMIA

Test Code: 721140 Genetik Tanı Testleri - Gen:

Method :Short-term Cell Culture / Working Days : Everyday /Report Duration : 21 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Heparinized tube	2-5 ml	18-24 °C

Deficiency of Aryl Sulfatase (Metachromatic Leukodystrophy), ARSA Gene Analysis

Test Code: 715030 Genetik Tanı Testleri - Gen: ARSA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Diabetes Mellitus Type 1 Gene Analysis

Test Code: 711520 Genetik Tanı Testleri - Gen: INS

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Diamond Blackfan Anaemia Gene Analysis

Test Code: 713450 Genetik Tanı Testleri - Gen: RPS19

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Dihydrolipoamide Dehydrogenase (E3) Deficiency (Pyruvate Dehydrogenase E3 Deficiency), DLD Gene Analysis

Test Code: 715070 Genetik Tanı Testleri - Gen: DLD

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Distal Arthrogryposis Type 1 TPM2 Gene Analysis

Test Code: 714130 Genetik Tanı Testleri - Gen: TPM2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Distal Renal Tubular Acidosis SLC4A1 Gene Analysis

Test Code: 714140 Genetik Tanı Testleri - Gen: SLC4A1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Dowling-Degos Disease, KRT5, POFUT1, POGLUT1 Gene Analysis

Test Code: 716450 Genetik Tanı Testleri - Gen: KRT5, POFUT1, POGLUT1

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Dravet Syndrome

Test Code: 713650 Genetik Tanı Testleri - Gen: SCN1A

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Duchenne Muscular Dystrophy (DMD) Dystrophin Gene Analysis

Test Code: 711540 Genetik Tanı Testleri - Gen: DMD

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Duchenne Muscular Dystrophy (DMD) Dystrophin Gene Delays Duplication Analysis

Test Code: 711550 Genetik Tanı Testleri - Gen: DMD

Method : MLPA / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Duchenne Muscular Dystrophy (DMD) Dystrophin Gene Delays Duplication Analysis, Prenatal

Test Code: 711560 Genetik Tanı Testleri - Gen: DMD

Method : MLPA / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
Amniotic Fluid, CVS material, Cord Blood	See Description	See Description	18-24 °C

DYT11, SGCE Gene Analysis

Test Code: 714390 Genetik Tanı Testleri - Gen: SGCE

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

DYT12, ATP1A3 Gene Analysis

Test Code: 714400 Genetik Tanı Testleri - Gen: ATP1A3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

DYT16, PRKRA Gene Analysis

Test Code: 714410 Genetik Tanı Testleri - Gen: PRKRA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

DYT23, CIZ1 Gene Analysis

Test Code: 714360 Genetik Tanı Testleri - Gen: CIZ1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

DYT25, GNAL Gene Analysis

Test Code: 714370 Genetik Tanı Testleri - Gen: GNAL

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

DYT4, TUBB4 Gene Analysis

Test Code: 714340 Genetik Tanı Testleri - Gen: TUBB4

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

DYT5, GCH1 Gene Analysis

Test Code: 714380 Genetik Tanı Testleri - Gen: GCH1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

DYT6, THAP1 Gene Analysis

Test Code: 714350 Genetik Tanı Testleri - Gen: THAP1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

DYT8, MR1 Gene Analysis

Test Code: 714420 Genetik Tanı Testleri - Gen: MR1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

E-cadherin (Hereditary Diffuse Gastric Carcinoma)

Test Code: 711580 Genetik Tanı Testleri - Gen: CDH1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

EAST (KCNJ10) Gene Analysis

Test Code: 714010 Genetik Tanı Testleri - Gen: KCNJ10

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

EGFR Target Mutation Analysis

Test Code: 711590 Genetik Tanı Testleri - Gen: EGFR

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Ehlers Danlos Panel

Test Code: 713200 Genetik Tanı Testleri - Gen: WES

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Epidermolysis Bulkola Panel, Exomal Analysis

Test Code: 716480 Genetik Tanı Testleri - Gen:

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Epidermolysis Bullosa Panel

Test Code: 713180 Genetik Tanı Testleri - Gen: WES

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Epidermolysis Bulloza Dystrophic (OR Pass), COL7A1 Gene Analysis

Test Code: 716470 Genetik Tanı Testleri - Gen: COL7A1

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Epidermolysis Bulloza Simplex, KRT5, KRT14 Gene Analysis

Test Code: 716490 Genetik Tanı Testleri - Gen: KRT5, KRT14

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Epidermolytic Hyperkeratosis, KRT1, KRT10 gene Analysis

Test Code: 716460 Genetik Tanı Testleri - Gen: KRT1, KRT10

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Erythropoetic Porphyria, UROS Gene Analysis

Test Code: 715080 Genetik Tanı Testleri - Gen: UROS

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Exome Sequencing, Mother, Father, Child

Test Code: 711610 Genetik Tanı Testleri - Gen: Tüm Ekzon

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Exome Sequencing, Mother, Father, Child, CNV (copy number variations)

Test Code: 711630 Genetik Tanı Testleri - Gen: Tüm Ekzon

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Exome Sequencing, Single Individual

Test Code: 711600 Genetik Tanı Testleri - Gen: Tüm Ekzon

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Exome Sequencing, Single Individual, CNV (copy number variations)

Test Code: 711620 Genetik Tanı Testleri - Gen: Tüm Ekzon

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Fabry Disease

Test Code: 711640 Genetik Tanı Testleri - Gen: GLA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Fabry Disease, GLA Gene Delay Analysis

Test Code: 715090 Genetik Tanı Testleri - Gen: GLA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Factor 7 Deficiency Gene Analysis

Test Code: 713560 Genetik Tanı Testleri - Gen: F7

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Factor II (Prothrombin) Polymorphism Analysis

Test Code: 711650 Genetik Tanı Testleri - Gen: FII

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Factor V Cambridge Polymorphism Analysis

Test Code: 711660 Genetik Tanı Testleri - Gen: FV

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Factor V H1299R Polymorphism Analysis

Test Code: 711670 Genetik Tanı Testleri - Gen: FV

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Factor V_Leiden Polymorphism

Test Code: 711680 Genetik Tanı Testleri - Gen: FV

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Factor XIII Polymorphism Analysis

Test Code: 711690 Genetik Tanı Testleri - Gen: FXIII

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Adenomatous Polyposis (FAP)

Test Code: 711110 Genetik Tanı Testleri - Gen: APC

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Adenomatous Polyposis (FAP) APC and MUTYH Gene Analysis

Test Code: 8392130 Genetik Tanı Testleri - Gen: APC, MUTYH

Method: NGS Next Generation Reconditioning Study Day: Every Day Reporting Time: 30 Days
Sample Name	Tube	Quantity	Transport
Blood^EDTA	Purple Covered Tube	3-5 ml	18-24ﾟC
* Genetic confirmation form should be filled in for this test. * This test is approved.
Additional information
Mutations in two distinct loci causing autosomal dominant inheritance and classical and attenuated familial adenomatous polyposis (OMIM # 175100, 608456) are screened by sequence analysis.

Familial Hemophagocytic Lymphohistiocytosis Type 2 Gene Analysis

Test Code: 712960 Genetik Tanı Testleri - Gen: PRF1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Hyperaldosteronism Type 1, CYP11B2

Test Code: 716000 Genetik Tanı Testleri - Gen: CYP11B2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Hypercholesterolaemia Panel

Test Code: 711120 Genetik Tanı Testleri - Gen: APOB, LDLR, LDLRAP1, PCSK9

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Hyperinsulinemic Hypoglycaemia Type 1, ABCC8 Gene Analysis

Test Code: 716010 Genetik Tanı Testleri - Gen: ABCC8

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Hyperlepterodenosis (Glucocorticoid Correctable Aldosteronism) Type 3, KCNJ5

Test Code: 715990 Genetik Tanı Testleri - Gen: KCNJ5

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Hyperlipidaemic Hypercholesterolemia, APOE Gene Analysis

Test Code: 714940 Genetik Tanı Testleri - Gen: APOE

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial hypomagnesemia hypercalciuria and nephrocalcinosis CLDN16, CLDN19 Gene Analysis

Test Code: 714040 Genetik Tanı Testleri - Gen: CLDN16,CLDN19

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Isolated Hypoparathyroidism, GCM2 Gene Analysis

Test Code: 716030 Genetik Tanı Testleri - Gen: GCM2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Isolated Hypoparathyroidism, PTH Gene Analysis

Test Code: 716040 Genetik Tanı Testleri - Gen: PTH

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Isolated Pituitary Adenoma (FIPA), AIP Gene Analysis

Test Code: 716020 Genetik Tanı Testleri - Gen: AIP

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Lipoprotein Lipase Deficiency, LPL Gene Analysis

Test Code: 716050 Genetik Tanı Testleri - Gen: LPL

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Mediterranean Fever (FMF)

Test Code: 711170 Genetik Tanı Testleri - Gen: MEFV

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Mediterranean Fever (FMF) (selected exon)

Test Code: 711140 Genetik Tanı Testleri - Gen: MEFV

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Mediterranean Fever (FMF) (Target Mutation Analysis 10 Mutation)

Test Code: 711160 Genetik Tanı Testleri - Gen: MEFV

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Mediterranean Fever (FMF) (Target Mutation Analysis 5 Mutation)

Test Code: 711150 Genetik Tanı Testleri - Gen: MEFV

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Pityriasis Rubra Pilaris, CARD14 Gene Analysis

Test Code: 716400 Genetik Tanı Testleri - Gen: CARD14

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Familial Pressure Sensitive Neuropathy (Tomacular Neuropathy), PMP22 Gene Analysis

Test Code: 714890 Genetik Tanı Testleri - Gen: PMP22

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Fanconi - Bickel Syndrome, SLC2A2 Gene Analysis

Test Code: 715100 Genetik Tanı Testleri - Gen: SLC2A2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Farber Disease / Lipogranulomatosis (Ceramidase Deficiency / Acid Ceramidase Deficiency), ASAH1 Gene Analysis

Test Code: 715110 Genetik Tanı Testleri - Gen: ASAH1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Fazio - Londe Disease, SLC52A3 Gene Analysis

Test Code: 715120 Genetik Tanı Testleri - Gen: SLC52A3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

FGFR2 Gene Analysis (craniosynostoses syndromes)

Test Code: 711710 Genetik Tanı Testleri - Gen: FGFR2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

FGFR3 Gene Analysis

Test Code: 711720 Genetik Tanı Testleri - Gen: FGFR3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Finnish Type Sialüri (Infantile Sialyri-Salla Disease-Nana Warehouse Disease-Sialic Acid Depot Disease), SLC17A5 Gene Analysis

Test Code: 715140 Genetik Tanı Testleri - Gen: SLC17A5

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

FISH 1p36 (1p36 Microdeletion Syndrome)

Test Code: 741120 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH 2p24.3 (N-MYC)

Test Code: 741130 Genetik Tanı Testleri - Gen: N-MYC

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH ALK Rearrangements

Test Code: 741140 Genetik Tanı Testleri - Gen: ALK

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Fresh Tumour Section, Paraffin Block	See Description	See Description	18-24 °C

FISH ALL Panel

Test Code: 741150 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH AML/MDS Panel

Test Code: 741160 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH C-MET Amplification (7q31)

Test Code: 741820 Genetik Tanı Testleri - Gen: C-MET

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Fresh Tumour Section, Paraffin Block	See Description	See Description	18-24 °C

FISH C-MYC (8q24 Rearrangement)

Test Code: 741740 Genetik Tanı Testleri - Gen: MYC

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH CHARGE Syndrome (8q12.2 Microdeletion)

Test Code: 741200 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH Chimerism, X/Y Analysis with FISH, Different Sex Transplantation

Test Code: 741360 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH Cri Du Chat Syndrome (5p Microdeletion)

Test Code: 741210 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH del 11q22.3 (ATM)

Test Code: 741220 Genetik Tanı Testleri - Gen: ATM

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH del 13q14 (RB1)

Test Code: 741230 Genetik Tanı Testleri - Gen: RB1

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH del 13q34

Test Code: 741240 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH del 17p13.1 (P53)

Test Code: 741290 Genetik Tanı Testleri - Gen: TP53

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH del 1p32.3/1q21.3 (CKS1B/CDKN2C)

Test Code: Genetik Tanı Testleri - Gen:

Method : / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH del 20q

Test Code: 741250 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH del 5q (EGR1)

Test Code: 741260 Genetik Tanı Testleri - Gen: EGR1

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH del 7q

Test Code: 741270 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH del 9p21 (P16)

Test Code: 741280 Genetik Tanı Testleri - Gen: P16

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH del(1p19q)(1p36/1q25)(19p13/19p13)

Test Code: 741830 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Fresh Tumour Section, Paraffin Block	See Description	See Description	18-24 °C

FISH DiGeorge Syndrome (22q11.2 Microdeletion)

Test Code: 741310 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH EGFR Amplification (7p11.2)

Test Code: 741800 Genetik Tanı Testleri - Gen: EGFR

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Fresh Tumour Section, Paraffin Block	See Description	See Description	18-24 °C

FISH EML4 (2p21 Rearrangement)

Test Code: 741810 Genetik Tanı Testleri - Gen: EML4

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Fresh Tumour Section, Paraffin Block	See Description	See Description	18-24 °C

FISH FIP1L1/CHIC2/PDGFRA (4q12 Rearrangements)

Test Code: 741450 Genetik Tanı Testleri - Gen: PDGFRA

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH HER2/NEU (ERBB2)

Test Code: 741320 Genetik Tanı Testleri - Gen: EBB2

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Fresh Tumour Section, Paraffin Block	See Description	See Description	18-24 °C

FISH IGH (14q32 Rearrangement)

Test Code: 741330 Genetik Tanı Testleri - Gen: IGH

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH inv(16) t(16;16) (CBFB/MYH11)

Test Code: 741340 Genetik Tanı Testleri - Gen: CBFB/MYH11

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH inv3 t(3;3) (MECOM)

Test Code: Genetik Tanı Testleri - Gen: MECOM

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH Kallmann Syndrome (Xp22.3 Microdeletion)

Test Code: 741350 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH KLL panel

Test Code: 741370 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH MALT1 (18q21 Rearrangement)

Test Code: 741720 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH Miller-Dieker Syndrome (17p13 Microdeletion)

Test Code: 741380 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH MLL (11q23 Rearrangement)

Test Code: 741300 Genetik Tanı Testleri - Gen: MLL

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH Monosomy / Trisomy 12

Test Code: 741690 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH Monosomy / Trisomy 12

Test Code: 741690 Genetik Tanı Testleri - Gen: IGH/BCL2

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH Monosomy / Trisomy 8

Test Code: 741730 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH Monosomy, Trisomy 4

Test Code: 741410 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH Monosomy, Trisomy 5

Test Code: 741400 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH Monosomy, Trisomy 7

Test Code: 741420 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH Monosomy, Trisomy X

Test Code: 741390 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH Multiple Myeloma panel

Test Code: Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH NHL (Non Hodgkin Lymphoma) panel

Test Code: 741440 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH PDGFRB Analysis

Test Code: 741460 Genetik Tanı Testleri - Gen: PDGFRB

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH Prader-Willi / Angelman Syndrome (SNRPN) (15q11.2-q13 Microdeletion)

Test Code: 741470 Genetik Tanı Testleri - Gen: SNRPN

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH Preimplantation genetic diagnosis-chromosome aneuploidy and ploidy research

Test Code: 741480 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 2 Days
Sample Name	Tube	Quantity	Transport
Blastomere	See Description	See Description	18-24 °C

FISH Preimplantation genetic diagnosis-reciprocal chromosome translocation

Test Code: 741490 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 2 Days
Sample Name	Tube	Quantity	Transport
Blastomere	See Description	See Description	18-24 °C

FISH Preimplantation genetic diagnosis-robertsonian translocation

Test Code: 741500 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 2 Days
Sample Name	Tube	Quantity	Transport
Blastomere	See Description	See Description	18-24 °C

FISH Rapid Aneuploidy (13,18,21, X, Y)

Test Code: 741170 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 3 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH ROS1 (6q22 Rearrangement)

Test Code: 741510 Genetik Tanı Testleri - Gen: ROS1

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Fresh Tumour Section, Paraffin Block	See Description	See Description	18-24 °C

FISH Rubinstein Taybi Syndrome (16p13 Microdeletion)

Test Code: 741520 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH Seathre-Chotzen Syndrome (7p21 Microdeletion)

Test Code: 741530 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH SHOX Deletion

Test Code: 741540 Genetik Tanı Testleri - Gen: SHOX

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH Smith-Magenis Syndrome (17p11 Microdeletion)

Test Code: 741550 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH SOTOS Syndrome (5q35.3 Microdeletion)

Test Code: 741560 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH SRY Analysis

Test Code: 741570 Genetik Tanı Testleri - Gen: SRY

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH Subtelomeric Probe Single Chromosome

Test Code: 741580 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Heparinli tüp	2-5 ml	18-24 °C

FISH Subtelomeric Probes Two Chromosomes

Test Code: 741580 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Heparinli tüp	2-5 ml	18-24 °C

FISH Subtelomeric Screening (All Chromosomes)

Test Code: 741600 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Heparinli tüp	2-5 ml	18-24 °C

FISH t(1;19) (TCF3(E2A)/PBX1))

Test Code: 741620 Genetik Tanı Testleri - Gen: TCF3(E2A)/PBX1

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH t(11;14) (CCND1/IGH)

Test Code: 741680 Genetik Tanı Testleri - Gen: CCND1/IGH

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Heparinli tüp	2-5 ml	18-24 °C

FISH t(11;14) (IGH/MYEOV)

Test Code: 741190 Genetik Tanı Testleri - Gen: IGH/MYEOV

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH t(11;19) (MLL/MLLT1)

Test Code: 741100 Genetik Tanı Testleri - Gen: MLL/MLLT1

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH t(12;21) TEL/AML1 (ETV6/RUNX1)

Test Code: 741630 Genetik Tanı Testleri - Gen: TEL/AML1 (ETV6/RUNX1)

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH t(14;16) (IGH/MAF)

Test Code: 741640 Genetik Tanı Testleri - Gen: IGH/MAF

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH t(15;17) (PML/RARA)

Test Code: 741710 Genetik Tanı Testleri - Gen: PML/RARA

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH t(2;8) (IGK/MYC)

Test Code: 741780 Genetik Tanı Testleri - Gen: IGK/MYC

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH t(4;11) (MLL/AFF1)

Test Code: 741110 Genetik Tanı Testleri - Gen: MLL/AFF1

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH t(4;14) (IGH/FGFR3)

Test Code: 741650 Genetik Tanı Testleri - Gen: IGH/FGFR3

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH t(8;14) (MYC/IGH)

Test Code: 741750 Genetik Tanı Testleri - Gen: MYC/IGH

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH t(8;21) (AML1/ETO)

Test Code: 741760 Genetik Tanı Testleri - Gen: AML1/ETO

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH t(8;22) (IGL/MYC)

Test Code: 741180 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH t(9;11) (MLL/MLLT3)

Test Code: 741790 Genetik Tanı Testleri - Gen: MLL/MLLT3

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH t(9;22) (BCR/ABL)

Test Code: 741770 Genetik Tanı Testleri - Gen: BCR/ABL

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Bone Marrow Heparin, Blood Heparin	Heparinized tube	2-5 ml	18-24 °C

FISH trisomy 21

Test Code: 741610 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH Williams Syndrome (7q11.23 Microdeletion)

Test Code: 741660 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

FISH Wolf-Hirschhorn Syndrome (4p16.3 Microdeletion)

Test Code: 741670 Genetik Tanı Testleri - Gen:

Method : FISH / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Blood HEPARIN, Amnion Liquid, CVS Material, Abort Material, Cord Blood	See Description	See Description	18-24 °C

Fish-Eye Disease, LCAT Gene Analysis

Test Code: 715150 Genetik Tanı Testleri - Gen: LCAT

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

FLT3 Gene ITD (Internal tandem duplication) Analysis

Test Code: 711730 Genetik Tanı Testleri - Gen: FLT3

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

FLT3 Gene Target Mutation Analysis

Test Code: 711740 Genetik Tanı Testleri - Gen: FLT3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Focal Dermal Hypoplasia, PORCN Gene Analysis

Test Code: 716500 Genetik Tanı Testleri - Gen: PORCN

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Fragile X FMR1 Gene CGG Triple Repeat Analysis

Test Code: 711750 Genetik Tanı Testleri - Gen: FMR1

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Friedreich Ataxia FXN Gene GAA Triple Repeat Analysis

Test Code: 711760 Genetik Tanı Testleri - Gen: FXN

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Fructose 1,6 Bisphosphatase Deficiency

Test Code: 711770 Genetik Tanı Testleri - Gen: FBP1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Fucosidosis, FUCA1 Gene Analysis

Test Code: 715170 Genetik Tanı Testleri - Gen: FUCA1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Fumarase Deficiency, FH Gene Analysis

Test Code: 715180 Genetik Tanı Testleri - Gen: FH

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Galactokinase Deficiency

Test Code: 711780 Genetik Tanı Testleri - Gen: GALK1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Galactose - 1 - Phosphate Uridyl Transferase Deficiency (Galactoseemia Type 1- GALT Deficiency), GALT Gene Analysis

Test Code: 715200 Genetik Tanı Testleri - Gen: GALT

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Galactose Epimerase Deficiency, GALE Gene Analysis

Test Code: 715210 Genetik Tanı Testleri - Gen: GALE

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Galactoseemia Gene Analysis

Test Code: 713280 Genetik Tanı Testleri - Gen: GALT

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Galactoseemia Type 2, GALK1 Gene Analysis

Test Code: 715220 Genetik Tanı Testleri - Gen: GALK1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Galactosialidosis, CTSA Gene Analysis

Test Code: 715190 Genetik Tanı Testleri - Gen: CTSA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Gaucher Disease Gene Analysis

Test Code: 711800 Genetik Tanı Testleri - Gen: GBA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Gilbert Syndrome Gene Analysis

Test Code: 711810 Genetik Tanı Testleri - Gen: UGT1A1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Gitelman Syndrome (SLC12A3) Gene Analysis

Test Code: 714000 Genetik Tanı Testleri - Gen: SLC12A3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Glucose 6 Phosphate Dehydrogenase Deficiency (Favism)

Test Code: 711830 Genetik Tanı Testleri - Gen: G6PD

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

GLUT1 Deficiency (Glucose Transporter Defect Type 1)

Test Code: 711840 Genetik Tanı Testleri - Gen: SLC2A1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Glut1 Deficiency Syndrome Type 2, SLC2A1 Gene Analysis

Test Code: 715260 Genetik Tanı Testleri - Gen: SLC2A1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Glutaric Aciduria - Glutaric Acidaemia Type 2 (Multiple Acyl Coa Dehydrogenase), ETFA Gene Analysis

Test Code: 715270 Genetik Tanı Testleri - Gen: ETFA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Glutaric Aciduria Type 1

Test Code: 713680 Genetik Tanı Testleri - Gen: GCDH

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Glycerol Kinase Deficiency, GK Gene Analysis

Test Code: 715240 Genetik Tanı Testleri - Gen: GK

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Glycine Encephalopathy, Nonketotic hyperglycinemia AMT Gene Analysis

Test Code: 715250 Genetik Tanı Testleri - Gen: AMT

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Glycogen Depot Disease Panel (WES Analysis)

Test Code: 715230 Genetik Tanı Testleri - Gen: WES

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

GM1 Gangliosidosis Target Mutation Analysis

Test Code: 711850 Genetik Tanı Testleri - Gen: GLB1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

GM1 Gangliosidosis Type 1, Type 2 and Type 3, GLB1 Gene Analysis

Test Code: 715280 Genetik Tanı Testleri - Gen: GLB1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

GM2 Gangliosidosis Type 1 Hexosaminidase Deficiency, HEXA Gene Analysis

Test Code: 715290 Genetik Tanı Testleri - Gen: HEXA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

GM2 Gangliosidosis, GM2A Gene Analysis

Test Code: 714460 Genetik Tanı Testleri - Gen:

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Gracile Syndrome, BCS1L Gene Analysis

Test Code: 715300 Genetik Tanı Testleri - Gen: BCS1L

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Granulomatosis Chronic Disease Gene Analysis

Test Code: 713440 Genetik Tanı Testleri - Gen: CYBA, CYBB, NCF1, NCF2, NCF4

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Griscelli Syndrome Type 2 Gene Analysis

Test Code: 711860 Genetik Tanı Testleri - Gen: RAB27A

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Growth Retardation, Laron's syndrome, GH Gene Analysis

Test Code: 715880 Genetik Tanı Testleri - Gen: GHR

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Haemophilia A F8 Gene Analysis

Test Code: 711880 Genetik Tanı Testleri - Gen: F8

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Haemophilia A F8 Genetic Deletion Duplication Analysis

Test Code: 711890 Genetik Tanı Testleri - Gen: F8

Method : MLP / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Haemophilia B F9 Gene Analysis

Test Code: 711900 Genetik Tanı Testleri - Gen: F9

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Haemophilia B F9 Genetic Delusion Duplication Analysis

Test Code: 711910 Genetik Tanı Testleri - Gen: F9

Method : MLP / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Halocarboxylase Synthetase Deficiency, HLCS Gene Analysis

Test Code: 715310 Genetik Tanı Testleri - Gen: HLCS

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hartnup's disease, SLC6A19 Gene Analysis

Test Code: 714470 Genetik Tanı Testleri - Gen: SLC6A19

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hawkinsinuria, HPD Gene Analysis

Test Code: 715320 Genetik Tanı Testleri - Gen: HPD

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hemiplegic Migraine, Ataxia, Infantile Convulsions, PRRT2 Gene Analysis

Test Code: 714270 Genetik Tanı Testleri - Gen: PRRT2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hemochromatosis Target Mutation Analysis (18 mutations)

Test Code: 711870 Genetik Tanı Testleri - Gen: HFE

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hemophagostic Lymphohistiocytosis Type 3

Test Code: 713580 Genetik Tanı Testleri - Gen: UNC13D

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hemophagostic Lymphohistiocytosis Type 4

Test Code: 713570 Genetik Tanı Testleri - Gen: STX11

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hepatic Lipase Deficiency (dyslipidaemia), LIPC Gene Analysis

Test Code: 716070 Genetik Tanı Testleri - Gen: LIPC

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Acrodermatitis Enteropathy, SLC39A4 Gene Analysis

Test Code: 715920 Genetik Tanı Testleri - Gen: SLC39A4

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Gynecological Cancer Panel

Test Code: 713530 Genetik Tanı Testleri - Gen: 53 Gen

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Hemochromatosis, HFE Gene Analysis

Test Code: 715330 Genetik Tanı Testleri - Gen: HFE

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Neuralgic Amyotrophy (HNA), SEPT9 Gene Analysis

Test Code: 714810 Genetik Tanı Testleri - Gen: SEPT9

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Neutrophilia Gene Analysis

Test Code: 713410 Genetik Tanı Testleri - Gen: CSF3R

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Non Polyposis Cancer Panel

Test Code: 711940 Genetik Tanı Testleri - Gen: MLH1, MSH2, MSH6, PMS2

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary pancreatitis

Test Code: 713690 Genetik Tanı Testleri - Gen: PRSS1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary pancreatitis

Test Code: 713700 Genetik Tanı Testleri - Gen: SPINK1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Paraganglioma / Pheochromocytoma Type 1, SDHD Gene Analysis

Test Code: 716170 Genetik Tanı Testleri - Gen: SDHD

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Paraganglioma / Pheochromocytoma Type 2, SDHAF2 Gene Analysis

Test Code: 716180 Genetik Tanı Testleri - Gen: SDHAF2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Paraganglioma / Pheochromocytoma Type 3, SDHC Gene Analysis

Test Code: 716190 Genetik Tanı Testleri - Gen: SDHC

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Paraganglioma / Pheochromocytoma Type 4, SDHB Gene Analysis

Test Code: 716200 Genetik Tanı Testleri - Gen: SDHB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Sensory Autonomic Neuropathy Type 2A (HSAN2A), WNK1 Gene Analysis

Test Code: 714790 Genetik Tanı Testleri - Gen: WNK1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Sensory Autonomic Neuropathy Type 2B (HSAN2B), RETREG1 Gene Analysis

Test Code: 714800 Genetik Tanı Testleri - Gen: RETREG1

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Sensory Autonomic Neuropathy Type 5 (HSAN5), NGF Gene Analysis

Test Code: 714780 Genetik Tanı Testleri - Gen: NGF

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Sensory Autonomic Neuropathy Type1E (HSAN1E), DNMT1 Gene Analysis

Test Code: 714770 Genetik Tanı Testleri - Gen: DNMT1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Sensory Neuropathy Type1A, SPTLC1 Gene Analysis

Test Code: 714760 Genetik Tanı Testleri - Gen: SPTLC1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hereditary Spastic Paraplegia Type 4 Gene Analysis

Test Code: 712970 Genetik Tanı Testleri - Gen: SPAST

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

HMG-CoA Lyase Incomplete, HMGCL Gene Analysis

Test Code: 715380 Genetik Tanı Testleri - Gen: HMGCL

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

HMG-CoA Synthase 2 Deficiency, HMGCS2 Gene Analysis

Test Code: 715390 Genetik Tanı Testleri - Gen: HMGCS2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Holt Oram Syndrome

Test Code: 713740 Genetik Tanı Testleri - Gen: TBX5

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Homocystinuria, connected to cystathionine beta Synthase Deficiency, CBS Gene Analysis

Test Code: 715400 Genetik Tanı Testleri - Gen: CBS

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Huntington's Disease CAG Triple Repeat Analysis

Test Code: 711950 Genetik Tanı Testleri - Gen: HTT

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hydrotic Ectodermal Dysplasia Type 2

Test Code: 712980 Genetik Tanı Testleri - Gen: GJB6

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hyper Igd Syndrome

Test Code: 713710 Genetik Tanı Testleri - Gen: MVK

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hyper-Ige Syndrome (AR)

Test Code: 713720 Genetik Tanı Testleri - Gen: DOCK8

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hyperalphalipoproteinemia, CETP Gene Analysis

Test Code: 715340 Genetik Tanı Testleri - Gen: CETP

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hypercholesterolemia, LDLR Gene Analysis

Test Code: 716080 Genetik Tanı Testleri - Gen: LDLR

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hyperhomocysteinemia / homocystinuria cblE Type, MTRR Gene Analysis

Test Code: 715350 Genetik Tanı Testleri - Gen: MTRR

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hyperprolinemia Type 2, ALDH4A1 Gene Analysis

Test Code: 715360 Genetik Tanı Testleri - Gen: ALDH4A1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hyperserotonaemia-Cataract Syndrome

Test Code: 713810 Genetik Tanı Testleri - Gen: FTL

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hypogonadotropic Hypogonadism, GNRHR Gene Analysis

Test Code: 716100 Genetik Tanı Testleri - Gen: GNRHR

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hypogonadotropic Hypogonadism, Gonadotropin Releasing Hormone 1 Deficiency, GNRH1 Gene Analysis

Test Code: 716110 Genetik Tanı Testleri - Gen: GNRH1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hypogonadotropic Hypogonadism, Insulated Lutrophin Deficiency, Luteinizing Hormone Beta, LHB Gene Analysis

Test Code: 716120 Genetik Tanı Testleri - Gen: LHB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hypogonadotropic Hypogonadism, KISS1 Gene Analysis

Test Code: 716130 Genetik Tanı Testleri - Gen: KISS1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hypogonadotropic Hypogonadism, Polycystic Over Syndrome, Follicle Stimulated Hormone Deficiency, Follicle Stimulating Hormone Beta, FSHB Gene Analysis

Test Code: 716140 Genetik Tanı Testleri - Gen: FSHB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hypohydrotic Ectodermal Dysplasia, EDA, EDAR, EDARADD Gene Analysis

Test Code: 716510 Genetik Tanı Testleri - Gen: EDA, EDAR, EDARADD

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hypophosphatasia, ALPL Gene Analysis

Test Code: 716090 Genetik Tanı Testleri - Gen: ALPL

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hypotrichosis, DSG4 Gene Analysis

Test Code: 716520 Genetik Tanı Testleri - Gen: DSG4

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency, HPRT Gene Analysis

Test Code: 715370 Genetik Tanı Testleri - Gen: HPRT

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Ichthyosis, Exome Analysis

Test Code: 716530 Genetik Tanı Testleri - Gen:

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Idiopathic Infantile Hypercalcemia 1-2 Gene Analysis

Test Code: 713380 Genetik Tanı Testleri - Gen: CYP24A1, SLC34A1

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Imatinib (Gleevec) Resistance Mutation Analysis

Test Code: 711960 Genetik Tanı Testleri - Gen: ABL1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Immunodeficiency Anhidrotic Ectodermal Dysplasia, Autosomal Dominant, NFKBIA Gene Analysis

Test Code: 716540 Genetik Tanı Testleri - Gen: NFKBIA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

inv 16 (p13; q22) CBFB-MYH11 Fusion transcript

Test Code: 711970 Genetik Tanı Testleri - Gen: CBFB-MYH11

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

IPEX Syndrome (Immunodisregulation, Polyendocrinopathy and Enteropathy, Dependent to X), FOXP3 Gene Analysis

Test Code: 716150 Genetik Tanı Testleri - Gen: FOXP3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Isolated Familial Somatotropinoma (IFS), GNAS1 Gene Analysis

Test Code: 716160 Genetik Tanı Testleri - Gen: GNAS1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Isolated Growth Hormone Deficiency Gene Analysis

Test Code: 713390 Genetik Tanı Testleri - Gen: GH1, GHRHR, BTK

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Isovaleric Acidaemia, IVD Gene Analysis

Test Code: 715410 Genetik Tanı Testleri - Gen: IVD

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

JAK2 Gene Selected Exon Analysis

Test Code: 711980 Genetik Tanı Testleri - Gen: JAK2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

JAK2 Gene Target Mutation Analysis

Test Code: 711990 Genetik Tanı Testleri - Gen: JAK2

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Juvenile Parkinson

Test Code: 713660 Genetik Tanı Testleri - Gen: PARKN

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Kallmann Syndrome, KAL1 Gene Analysis

Test Code: 716210 Genetik Tanı Testleri - Gen: KAL1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Kearns Sayre Syndrome, mtDNA Analysis

Test Code: 714490 Genetik Tanı Testleri - Gen:

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Known Mutation Analysis

Test Code: 711350 Genetik Tanı Testleri - Gen:

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Known Mutation Analysis, Prenatal

Test Code: 711360 Genetik Tanı Testleri - Gen: BRAF

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
Amniotic Fluid, CVS material, Cord Blood	See Description	See Description	18-24 °C

Krabbe Disease Gene Analysis

Test Code: 713010 Genetik Tanı Testleri - Gen: GALC

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

KRAS Selected Exon Analysis

Test Code: 712090 Genetik Tanı Testleri - Gen: KRAS

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Kutis Laxa, Exome Analysis

Test Code: 716550 Genetik Tanı Testleri - Gen:

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

L - 2 - Hydroxyglutaric Aciduria, L2HGDH Gene Analysis

Test Code: 715480 Genetik Tanı Testleri - Gen: L2HGDH

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Lafora Disease (Epilepsy, Progressive Myoclonus Type 2a)

Test Code: 713020 Genetik Tanı Testleri - Gen: EPM2A

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Lamellar Ichthyosis, TGM1 Gene Analysis

Test Code: 716560 Genetik Tanı Testleri - Gen: TGM1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Laminin β2 gene mutation (LAMB2) Isolated NS, Pierson

Test Code: 713900 Genetik Tanı Testleri - Gen: LAMB2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Laminin β3 gene mutation (LAMB3)

Test Code: 713910 Genetik Tanı Testleri - Gen: LAMB3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Leber's Hereditary Optic Neuropathy

Test Code: 712100 Genetik Tanı Testleri - Gen: mtDNA

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Leigh Syndrome Gene Analysis

Test Code: 713140 Genetik Tanı Testleri - Gen: SURF1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Leptin Gene Analysis

Test Code: 712110 Genetik Tanı Testleri - Gen: LEP

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Leptin Receptor Deficiency, LEPR Gene Analysis

Test Code: 716250 Genetik Tanı Testleri - Gen: LEPR

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Lesch Nyhan Syndrome, HPRT1 Gene Analysis

Test Code: 714320 Genetik Tanı Testleri - Gen: HPRT1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Leydig Cell Hyperplasia, LHCGR Gene Analysis

Test Code: 716260 Genetik Tanı Testleri - Gen: LHCGR

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

LHON, mtDNA Analysis

Test Code: 714510 Genetik Tanı Testleri - Gen: LHON

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Liddle Syndrome, SLCC1B Gene Analysis

Test Code: 715930 Genetik Tanı Testleri - Gen: SLCC1B

Method:Consult To The Laboratory/Working Days:Everyday/ Report Duration: 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Lim Homeobox Transcription Factor 1b (LMXB1) Mutation (Nail-patella syndrome)

Test Code: 713920 Genetik Tanı Testleri - Gen: LMXB1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Limb Girdle Muscular Dystrophy Type 1C CAV3 Gene Analysis

Test Code: 714540 Genetik Tanı Testleri - Gen: CAV3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Limb Girdle Muscular Dystrophy Type 2

Test Code: 713030 Genetik Tanı Testleri - Gen: CAPN3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Limb Girdle Muscular Dystrophy type 2B

Test Code: 713040 Genetik Tanı Testleri - Gen: DYSF

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Limb Grade Muscular Dystrophy Type 1B, LMNA Gene Analysis

Test Code: 714530 Genetik Tanı Testleri - Gen: LMNA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Long Chain Acyl CoA Dehydrogenase Deficiency, ACADL Gene Analysis

Test Code: 715810 Genetik Tanı Testleri - Gen: ACADL

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Lowe Syndrome Gene Analysis

Test Code: 713540 Genetik Tanı Testleri - Gen: OCRL1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Lung Cancer Liquid Biopsy Panel (NSCLC)

Test Code: 713470 Genetik Tanı Testleri - Gen: EGFR, ALK, BRAF, KRAS, TP53, HER2, ROS1, RET, MET, PIK3CA

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Lung Cancer Panel: (Paraffin Block)

Test Code: 713480 Genetik Tanı Testleri - Gen: EGFR, KRAS, ALK, HER2, BRAF, MET, RET, PIK3CA, FGFR4, HER4

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
Fresh Tumour Section, Paraffin Block	See Description	See Description	18-24 °C

Lysinuric Protein Intolerance, SLC7A7 Gene Analysis

Test Code: 715490 Genetik Tanı Testleri - Gen: SLC7A7

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Mal de Meleda Disease, SLURP1 Gene Analysis

Test Code: 716570 Genetik Tanı Testleri - Gen: SLURP1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Malignant Melanoma Cancer Panel

Test Code: 713510 Genetik Tanı Testleri - Gen: "BRAF (V600E), CDKN2A, NRAS (kodon 12, 13, 61), CDK4

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Malonyl CoA decarboxylase deficiency, MLYCD Gene Analysis

Test Code: 715500 Genetik Tanı Testleri - Gen: MLYCD

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Maple Syrup Urine Disease, BCKDHA, BCKDHB, DBT Gene Analyses

Test Code: 714950 Genetik Tanı Testleri - Gen: BCKDHA,BCKDHB,DBT

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Marfan Syndrome Gene Analysis

Test Code: 712120 Genetik Tanı Testleri - Gen: FBN1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Marinesco Sjögren Syndrome SIL1 Gene Analysis

Test Code: 714200 Genetik Tanı Testleri - Gen: SIL1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Maroteaux-Lamy / Mucopolysaccharidosis Type VI Gene Analysis

Test Code: 713210 Genetik Tanı Testleri - Gen: ARSB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Mccune Albright Syndrome

Test Code: 713780 Genetik Tanı Testleri - Gen: GNAS

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Meckel-Gruber syndrome selected exon Analysis (16,17)

Test Code: 713060 Genetik Tanı Testleri - Gen: MKS1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Medium-Chain Acyl CoA Dehydrogenase Deficiency, ACADM Gene Analysis

Test Code: 715630 Genetik Tanı Testleri - Gen: ACADM

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

MEGDEL Syndrome (3-Methylglutaconic Aciduria, Deafness, Encephalomyopathy, Leigh-Like Disease), SERAC1 Gene Analysis

Test Code: 714280 Genetik Tanı Testleri - Gen: SERAC1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

MELAS Gene Analysis

Test Code: 712130 Genetik Tanı Testleri - Gen: mtDNA

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Menkes Disease, ATP7A Gene Analysis

Test Code: 715510 Genetik Tanı Testleri - Gen: ATP7A

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

MERRF, mtDNA Analysis

Test Code: 714500 Genetik Tanı Testleri - Gen: MERRF

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Metabolic Diseases Panel

Test Code: 713290 Genetik Tanı Testleri - Gen: WES

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Metachromatic Leukodystrophy Gene Analysis

Test Code: 712140 Genetik Tanı Testleri - Gen: ARSA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days Sample Name Tube Quantity Transport BloodEDTA Purple cap tube 2-5 ml 18-24 °C

Test Code: 713050 Genetik Tanı Testleri - Gen: MC2R

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Mevalonic Aciduria, MVK Gene Analysis

Test Code: 715520 Genetik Tanı Testleri - Gen: MVK

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

MGMT Gene Analysis

Test Code: 712150 Genetik Tanı Testleri - Gen: MGMT

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Microarray, Abort Material

Test Code: 712160 Genetik Tanı Testleri - Gen:

Method : Mikroarray / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Microarray, amniotic fluid, Prenatal

Test Code: 712180 Genetik Tanı Testleri - Gen:

Method : Mikroarray / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
Amniotic Fluid, CVS material, Cord Blood	See Description	See Description	18-24 °C

Microarray, CVS, Prenatal

Test Code: 712190 Genetik Tanı Testleri - Gen:

Method : Mikroarray / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
Amniotic Fluid, CVS material, Cord Blood	See Description	See Description	18-24 °C

Microarray, Peripheral Blood

Test Code: 712170 Genetik Tanı Testleri - Gen:

Method : Mikroarray / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Microsatellite Instability Analysis

Test Code: 712200 Genetik Tanı Testleri - Gen:

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Mitochondrial Genome Analysis

Test Code: 712210 Genetik Tanı Testleri - Gen: mtDNA

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

MODY Panel

Test Code: 712220 Genetik Tanı Testleri - Gen: HNF4A, GCK, HNF1A, HNF1B, HNF4A

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

MODY Type 1 HNF4A Gene Analysis

Test Code: 712230 Genetik Tanı Testleri - Gen: HNF4A

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

MODY Type 2 GCK Gene Analysis

Test Code: 712240 Genetik Tanı Testleri - Gen: GCK

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

MODY Type 3 HNF1A Gene Analysis

Test Code: 712250 Genetik Tanı Testleri - Gen: HNF1A

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

MODY Type 5 HNF1B Gene Analysis

Test Code: 712260 Genetik Tanı Testleri - Gen: HNF1B

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Molybdenum Cofactor Deficiency Type A, MOCS1 Gene Analysis

Test Code: 715530 Genetik Tanı Testleri - Gen: MOCS1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Monilethrix, KRT81, KRT83, KRT86 Gene Analysis

Test Code: 716580 Genetik Tanı Testleri - Gen: KRT81, KRT83, KRT86

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

MTHFR C677T and A1298C Polymorphisms

Test Code: 712270 Genetik Tanı Testleri - Gen: MTHFR

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

MTHFR Gene A1298C Polymorphism Analysis

Test Code: 712280 Genetik Tanı Testleri - Gen: MTHFR

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

MTHFR Gene C677T Polymorphism Analysis

Test Code: 712290 Genetik Tanı Testleri - Gen: MTHFR

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Muckle Wells Syndrome

Test Code: 713610 Genetik Tanı Testleri - Gen: NLRP3 (CIAS1)

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Mucolipidosis Type 1 (Sialidosis Type 1 and Type 2) (Neuraminidase Deficiency), NEU1 Gene Analysis

Test Code: 715540 Genetik Tanı Testleri - Gen: NEU1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Mucopolysaccharidose Panel (WES Analysis)

Test Code: 715550 Genetik Tanı Testleri - Gen: WES

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Mullerian Aplasia and Hyperandrogenism, WNT4 Gene Analysis

Test Code: 716280 Genetik Tanı Testleri - Gen: WNT4

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Multi-Minicom myopathy, RyR1, SEPN1 (WES Analysis)

Test Code: 714560 Genetik Tanı Testleri - Gen: RYR1, SEPN1

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Multiple Acyl Coa Dehydrogenase Deficiency

Test Code: 713770 Genetik Tanı Testleri - Gen: ETFB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Multiple Carboxylase Inactivation, BTD Gene Analysis

Test Code: 715560 Genetik Tanı Testleri - Gen: BTD

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Multiple Endocrine Neoplasia Type 1 Gene Analysis

Test Code: 712300 Genetik Tanı Testleri - Gen: MEN1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Multiple Endocrine Neoplasia Type 2A Gene Analysis

Test Code: 712310 Genetik Tanı Testleri - Gen: RET

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Multiple Sulfatase Deficiency, SUMF1 Gene Analysis

Test Code: 715570 Genetik Tanı Testleri - Gen: SUMF1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Myeloproliferative the Leukaemia Protein MPL Gene Target Mutation Analysis

Test Code: 712330 Genetik Tanı Testleri - Gen: MPL

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Myotonic Dystrophy Type 1 CTG Triple Repeat Analysis

Test Code: 712340 Genetik Tanı Testleri - Gen: DMPK

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

N - Acetyl Glutamate Sentase Deficiency, NAGS Gene Analysis

Test Code: 715580 Genetik Tanı Testleri - Gen: NAGS

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Nail Patella Syndrome, LMX1B Gene Analysis

Test Code: 716590 Genetik Tanı Testleri - Gen: LMX1B

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

NARP Syndrome (Neuropathy, Ataxia, Retinitis Pigmentosa)

Test Code: 713070 Genetik Tanı Testleri - Gen: mt-ATP6

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Naturopathy, LCAT Gene Analysis

Test Code: 715600 Genetik Tanı Testleri - Gen: LCAT

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Nemaline Myopathy, NEB, ACTA1 (WES Analysis)

Test Code: 714550 Genetik Tanı Testleri - Gen: NEB, ACTA1

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Neonatal Intrahepatic Cholestasis, Citrulinaemia Type 2 (Citrin Deficiency), SLC25A13 Gene Analysis

Test Code: 715590 Genetik Tanı Testleri - Gen: SLC25A13

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Nephrin (NPHS 1) gene mutations NPHS 1, Fin Type NS, Isolated NS

Test Code: 713860 Genetik Tanı Testleri - Gen: NPHS1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Nephrogenic Diabetes Insipidus AVPR2 / AQP2 Gene Analysis

Test Code: 714020 Genetik Tanı Testleri - Gen: AVPR2/AQP2

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Nephropathic Cystinosis

Test Code: 713730 Genetik Tanı Testleri - Gen: CTNS

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Nephrophytisis 1 Gene Analysis

Test Code: 713460 Genetik Tanı Testleri - Gen: NPHP1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Neuroferritinopathy (Hyperserotonaemia-Cataract Syndrome), FTL Gene Analysis

Test Code: 714330 Genetik Tanı Testleri - Gen: FTL

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Neurofibromatosis Type 1 Deletion Duplication Analysis

Test Code: 712420 Genetik Tanı Testleri - Gen: NF1

Method : MLPA / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Neurofibromatosis Type 1 Gene Analysis

Test Code: 712410 Genetik Tanı Testleri - Gen: NF1

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Neurofibromatosis Type 2 Gene Analysis

Test Code: 712430 Genetik Tanı Testleri - Gen: NF2

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Niemann-Pick Disease, Type A Gene Analysis

Test Code: 713230 Genetik Tanı Testleri - Gen: SMPD1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Niemann-Pick Disease, Type B Gene Analysis

Test Code: 713240 Genetik Tanı Testleri - Gen: NPC1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Niemann-Pick Disease, Type C Gene Analysis

Test Code: 713250 Genetik Tanı Testleri - Gen: NPC2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

NON-CETOTIC HYPERGLYCINEMIA, Glycine Encephalopathy

Test Code: 713800 Genetik Tanı Testleri - Gen: GLDC

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Non-invasive Prenatal Screening Test (NIPT), Trisomy 13-18-21, X, Y Screening from Maternal Blood

Test Code: 712380 Genetik Tanı Testleri - Gen: Kromozom 13, 18, 21, X, Y

Method : NGS / Working Days : Everyday / Report Duration : 10 Days
Sample Name	Tube	Quantity	Transport
Blood in a Special Tube	See Description	See Description	18-24 °C

Non-invasive Prenatal Screening Test Plus (NIPT- Plus), Trisomy 13-18-21, X, Y and Microdeletion Syndromes Screening from Maternal Blood

Test Code: 712390 Genetik Tanı Testleri - Gen: Kromozom 13, 18, 21, X, Y, mikrodelesyon sendromları

Method : NGS / Working Days : Everyday / Report Duration : 10 Days
Sample Name	Tube	Quantity	Transport
Blood in a Special Tube	See Description	See Description	18-24 °C

Non-Ketotic Hypoglycaemia, GCSH Gene Analysis

Test Code: 714310 Genetik Tanı Testleri - Gen: GCSH

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Non-Syndromeous Neurosensory Hearing Loss

Test Code: 711820 Genetik Tanı Testleri - Gen: GJB6

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Noonan Syndrome Gene Analysis

Test Code: 712400 Genetik Tanı Testleri - Gen: PTPN11

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

NRAS Selected Exon Analysis

Test Code: 712440 Genetik Tanı Testleri - Gen: NRAS

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Nucleophosmin (NPM1) Gene Target Mutation Analysis

Test Code: 712450 Genetik Tanı Testleri - Gen: NPM1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Obesity-Mc4r Gene Analysis

Test Code: 713620 Genetik Tanı Testleri - Gen: MC4R

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Ocular Albinism Type 1, GPR143 Gene Analysis

Test Code: 716610 Genetik Tanı Testleri - Gen: GPR143

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Oculo Auricular Syndrome

Test Code: 711930 Genetik Tanı Testleri - Gen: HMX1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Oculopharyngeal Muscular Dystrophy Gene Analysis

Test Code: 712540 Genetik Tanı Testleri - Gen: PABPN1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Ornithine Aminotransferase Deficiency, OAT Gene Analysis

Test Code: 715610 Genetik Tanı Testleri - Gen: OAT

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Ornithine Transcarbamylase Deficiency - OTC Deficiency, OTC Gene Analysis

Test Code: 715620 Genetik Tanı Testleri - Gen: OTC

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Osteogenesis Imperfecta Type 11, Gene Analysis

Test Code: 712480 Genetik Tanı Testleri - Gen: FKBP10

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Osteogenesis Imperfective Gene Analysis

Test Code: 712490 Genetik Tanı Testleri - Gen: COL1A1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Osteopetrosis (Autosomal Dominant) Gene Analysis

Test Code: 712500 Genetik Tanı Testleri - Gen: CLCN7

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Osteopetrosis (Autosomal Recessive) Gene Analysis

Test Code: 712510 Genetik Tanı Testleri - Gen: TCIRG1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Osteopetrosis X-Linked Gene Analysis

Test Code: 713400 Genetik Tanı Testleri - Gen: IKBKG

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Osteoporosis Polymorphism Analysis

Test Code: 712520 Genetik Tanı Testleri - Gen: COL1A1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

P53 Gene Analysis

Test Code: 712600 Genetik Tanı Testleri - Gen: TP53

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

PAI-1 Gene Polymorphism Analysis

Test Code: 712550 Genetik Tanı Testleri - Gen: PAI-1

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Palmoplantar Keratosis, CTSC Gene Analysis

Test Code: 716620 Genetik Tanı Testleri - Gen: CTSC

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Parietal Foramina Type 2

Test Code: 713830 Genetik Tanı Testleri - Gen: ALX4

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Paroxysmal Nocturnal Haemoglobinuria 1

Test Code: 713590 Genetik Tanı Testleri - Gen: PIGA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

PAX6 Gene Analysis

Test Code: 713550 Genetik Tanı Testleri - Gen: PAX6

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Phenylketonuria

Test Code: 711700 Genetik Tanı Testleri - Gen: PAH

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Phenylketonuria, PAH Gene Analysis

Test Code: 715130 Genetik Tanı Testleri - Gen: PAH

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Phosphoglycerate Dehydrogenase Deficiency, PHGDH Gene Analysis

Test Code: 715160 Genetik Tanı Testleri - Gen: PHGDH

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Phospholipase C epsilon 1 (PLCE-1) mutation NPHS 3, Isolated NS

Test Code: 713880 Genetik Tanı Testleri - Gen: NPHS3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Pierre Robin Syndrome Gene Analysis

Test Code: 713080 Genetik Tanı Testleri - Gen: SOX9

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Pigmented Nodular Adrenocortical Disease, PDE8B Gene Analysis

Test Code: 716310 Genetik Tanı Testleri - Gen: PDE8B

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Podocin (NPHS 2) gene mutations NPHS 2, Isolated NS

Test Code: 713870 Genetik Tanı Testleri - Gen: NPHS2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Polycystic Kidney Disease Autosomal Dominant PKD2 Gene Analysis

Test Code: 714160 Genetik Tanı Testleri - Gen: PKD2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Polycystic Kidney Disease Autosomal Recessive Gene Analysis

Test Code: 713090 Genetik Tanı Testleri - Gen: PKHD1

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Polycystic Kidney Disease Autosomal Recessive PKHD1 Gene Analysis

Test Code: 714170 Genetik Tanı Testleri - Gen: PKHD1

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Pompe's disease / Glycogen storage disease Type II Gene Analysis

Test Code: 713220 Genetik Tanı Testleri - Gen: GAA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Prader-Willi - Angelman Syndrome Methylation Pattern Analysis

Test Code: 712580 Genetik Tanı Testleri - Gen: SNRPN

Method : MLPA / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Primer Dystonia (Early onset)

Test Code: 711570 Genetik Tanı Testleri - Gen: TOR1A

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Primer Hyperoxaluria Type 1 Gene Analysis

Test Code: 712590 Genetik Tanı Testleri - Gen: AGXT

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Primer Macronodular Adrenal Hyperplasia, PDE11A Gene Analysis

Test Code: 716320 Genetik Tanı Testleri - Gen: PDE11

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Primer Ovarian Failure, FOXL2 Gene Analysis

Test Code: 716330 Genetik Tanı Testleri - Gen: FOXL2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Primer Pigmented Nodular Adrenocortical Disease (Carney Complex), PRKAR1A Gene Analysis

Test Code: 716340 Genetik Tanı Testleri - Gen: PRKAR1A

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Primer Sillier Dyskinesia

Test Code: 711530 Genetik Tanı Testleri - Gen: DNAAF2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Primer Systemic Carnitine Deficiency, SLC22A5 Gene Analysis

Test Code: 715670 Genetik Tanı Testleri - Gen: SLC22A5

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Prion Disease Gene Analysis

Test Code: 713100 Genetik Tanı Testleri - Gen: PRNP

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Progressive Erythrokeratoderma Variabilis, GJB3, GJB4 Gene Analysis

Test Code: 716630 Genetik Tanı Testleri - Gen: GJB3, GJB4

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Progressive External Ophthalmoplegia, mtDNA Analysis

Test Code: 714480 Genetik Tanı Testleri - Gen:

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Progressive familial intrahepatic cholestasis type 1

Test Code: 713750 Genetik Tanı Testleri - Gen: ATP8B1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Progressive familial intrahepatic cholestasis type 2

Test Code: 713760 Genetik Tanı Testleri - Gen: ABCB11

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Progressive Fibrodysplasia Ossificans ACVR1 Gene analysis

Test Code: 714210 Genetik Tanı Testleri - Gen: ACVR1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Proopiomelanocortin deficiency, POMC Gene Analysis

Test Code: 716350 Genetik Tanı Testleri - Gen: POMC

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Propionic Acidaemia, PCCA, PCCB Gene Analysis

Test Code: 714290 Genetik Tanı Testleri - Gen: PCCA, PCCB

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Prostate Cancer Panel

Test Code: 713520 Genetik Tanı Testleri - Gen: BRCA2, ATM, CHEK2, BRCA1, RAD51D, PALB2, ATR, NBN, PMS2, GEN1, MSH2, MSH6, PTEN, P53, HOXB13, MLH1

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Pseudo Rickets Vitamin D Deficiency Linked to Gene Analysis

Test Code: 713370 Genetik Tanı Testleri - Gen: CYP27B1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Pseudoxanthoma Elasticum, ABCC6 Gene Analysis

Test Code: 716640 Genetik Tanı Testleri - Gen: ABCC6

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Pyroglutamic Aciduria (Glutathione Synthetase Deficiency), GSS Gene Analysis

Test Code: 715640 Genetik Tanı Testleri - Gen: GSS

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Pyruvate carboxylase deficiency, PC Gene Analysis

Test Code: 715660 Genetik Tanı Testleri - Gen: PC

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Pyruvate Decarboxylase Deficiency, Pyruvate Dehydrogenase E1 - Alpha Deficiency, PDHA1 Gene Analysis

Test Code: 715650 Genetik Tanı Testleri - Gen: PDHA1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

QDPR Deficiency, QDPR Gene Analysis

Test Code: 715680 Genetik Tanı Testleri - Gen: QDPR

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Rapid Aneuploidy Analysis, Prenatal

Test Code: 711920 Genetik Tanı Testleri - Gen: Kromozom 13, 18, 21, X,Y

Method : QF-PCR / Working Days : Everyday / Report Duration : 3 Days
Sample Name	Tube	Quantity	Transport
Amniotic Fluid, CVS material, Cord Blood	See Description	See Description	18-24 °C

RAS Panel

Test Code: 714240 Genetik Tanı Testleri - Gen: KRAS-NRAS

Method : Real Time PCR / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Rett Syndrome Gene Analysis

Test Code: 712610 Genetik Tanı Testleri - Gen: MCP2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Rhizomelic Chondrodysplasia Punktata Type 1, PEX7 Gene Analysis

Test Code: 715690 Genetik Tanı Testleri - Gen: PEX7

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Russel Silver Methylation / UPD Analysis

Test Code: 713110 Genetik Tanı Testleri - Gen: IC1

Method : MLPA / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Secondary Hypocalcaemia with Familial Hypomagnesemia TRPM6 Gene Analysis

Test Code: 714050 Genetik Tanı Testleri - Gen: TRPM6

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Short Chain Acyl CoA Dehydrogenase Deficiency, ACADS Gene Analysis

Test Code: 715440 Genetik Tanı Testleri - Gen: ACADS

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

SHOX Gene Analysis

Test Code: 713120 Genetik Tanı Testleri - Gen: SHOX

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Sickle Cell Anaemia Target Mutation Analysis, Postnatal

Test Code: 712460 Genetik Tanı Testleri - Gen: HBB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Sickle Cell Anaemia Target Mutation Analysis, Prenatal

Test Code: 712470 Genetik Tanı Testleri - Gen: HBB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
Amniotic Fluid, CVS material, Cord Blood	See Description	See Description	18-24 °C

Sjögren-Larsson Syndrome ALDH3A2 Gene Analysis

Test Code: 714230 Genetik Tanı Testleri - Gen: ALDH3A2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Smith Lemli Opitz Syndrome Gene Analysis

Test Code: 712620 Genetik Tanı Testleri - Gen: DHCR7

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Somatic BRCA1 Gene Analysis

Test Code: 712630 Genetik Tanı Testleri - Gen: BRCA1

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Somatic BRCA2 Gene Analysis

Test Code: 712640 Genetik Tanı Testleri - Gen: BRCA2

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Sorbitol Dehydrogenase Deficiency, SORD Gene Analysis

Test Code: 715740 Genetik Tanı Testleri - Gen: SORD

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

SOX2 Anophthalmia Syndrome, SOX2 Gene Analysis

Test Code: 715940 Genetik Tanı Testleri - Gen: SOX2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Spinal Muscular Atrophy (SMA) Carrier Analysis

Test Code: 712650 Genetik Tanı Testleri - Gen: SMN1, SMN2

Method : MLPA / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Spinal Muscular Atrophy (SMA) Gene Analysis

Test Code: 712660 Genetik Tanı Testleri - Gen: SMN1

Method : RFLP / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Spinocerebellar Ataxia (SCA) Type 1 Triple Repeat Analysis

Test Code: 712670 Genetik Tanı Testleri - Gen: ATXN1

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Spinocerebellar Ataxia (SCA) Type 2 Triple Repeat Analysis

Test Code: 712680 Genetik Tanı Testleri - Gen: ATXN2

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Spinocerebellar Ataxia (SCA) Type 3 Triple Repeat Analysis

Test Code: 712690 Genetik Tanı Testleri - Gen: ATXN3

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Spinocerebellar Ataxia (SCA) Type 6 Triple Repeat Analysis

Test Code: 712700 Genetik Tanı Testleri - Gen: CACNA1A

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Spinocerebellar Ataxia (SCA) Type 7 Triple Repeat Analysis

Test Code: 712710 Genetik Tanı Testleri - Gen: ATXN7

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

SRY Gene Analysis

Test Code: 713130 Genetik Tanı Testleri - Gen: SRY

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Succinitis Semialdehyde Dehydrogenase Deficiency, ALDH5A1 Gene Analysis

Test Code: 714300 Genetik Tanı Testleri - Gen: ALDH5A1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Succinyl CoA: 3 - Oxoacid CoA Transferase Deficiency, SCOT Gene Analysis

Test Code: 715750 Genetik Tanı Testleri - Gen: SCOT

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Sulphide Oxidase Deficiency, SUOX Gene Analysis

Test Code: 715760 Genetik Tanı Testleri - Gen: SUOX

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Swyer Syndrome, NR5A1 Gene Analysis

Test Code: 715950 Genetik Tanı Testleri - Gen: NR5A1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Systemic Scleroderma Gene Analysis

Test Code: 713150 Genetik Tanı Testleri - Gen: IRF5, STAT4

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Systemic Scleroderma IRF5, STAT4 Gene Analysis

Test Code: 714220 Genetik Tanı Testleri - Gen: IRF5, STAT4

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

t(1;19) E2A-PBX Fusion transcript

Test Code: 712780 Genetik Tanı Testleri - Gen: E2A-PBX

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

t(12;21) TEL/AML1 Fusion transcript

Test Code: 712790 Genetik Tanı Testleri - Gen: TEL/AML1

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

t(15;17) PML/RARA Fusion transcript

Test Code: 712800 Genetik Tanı Testleri - Gen: PML/RARA

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

t(4;11)(q21;q23) MLL-AF4 Fusion transcript

Test Code: 712810 Genetik Tanı Testleri - Gen: MLL-AF4

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

t(8;21) AML1/ETO Fusion transcript

Test Code: 712820 Genetik Tanı Testleri - Gen: AML1/ETO

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

t(9;22) BCR/ABL1 p190 Fusion transcript

Test Code: Genetik Tanı Testleri - Gen: BCR/ABL1

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

t(9;22) BCR/ABL1 p210 Fusion transcript

Test Code: 712830 Genetik Tanı Testleri - Gen: BCR/ABL1

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Tay Sachs Disease Gene Analysis

Test Code: 713270 Genetik Tanı Testleri - Gen: HEXA

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Thrombophilia Panel

Test Code: 712730 Genetik Tanı Testleri - Gen: FII, FV, MTHFR, PAI-1

Method : Real Time PCR / Working Days : Everyday / Report Duration : 7 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Thrombotic Thrombolytic Purpura ADAMTS13 Gene Analysis

Test Code: 714090 Genetik Tanı Testleri - Gen: ADAMTS13

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Thyroid Hormone Resistance

Test Code: 713840 Genetik Tanı Testleri - Gen: THRB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Thyroxine Binding Globulin Deficiency, TBG Gene Analysis

Test Code: 712720 Genetik Tanı Testleri - Gen: SERPINA7

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Tiamin Dysfunction Type 2, SLC19A3 Gene Analysis

Test Code: 715770 Genetik Tanı Testleri - Gen: SLC19A3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

TPMT GENOTYPE ANALYSIS (Thiopurine S Methyl Transferase Deficiency)

Test Code: 712740 Genetik Tanı Testleri - Gen: TPMT

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Transaldolase deficiency, TALDO1 Gene Analysis

Test Code: 715790 Genetik Tanı Testleri - Gen: TALDO1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Transient Immunodeficiency Gene Analysis

Test Code: 713420 Genetik Tanı Testleri - Gen: TNFRSF13B

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Transthyretin Amyloidosis (TTR)

Test Code: 711130 Genetik Tanı Testleri - Gen: TTR

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Treacher Collins Syndrome, TCOF1 Gene Analysis

Test Code: 714820 Genetik Tanı Testleri - Gen: TCOF1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Trimethylaminuria, FMO3 Gene Analysis

Test Code: 715800 Genetik Tanı Testleri - Gen: FMO3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

TSHR (Thyroid Stimulating Hormone Receptor) Gene Analysis

Test Code: 712770 Genetik Tanı Testleri - Gen: TSHR

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Tuberous Sclerosis 2 Gene Analysis

Test Code: 712760 Genetik Tanı Testleri - Gen: TSC2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Tuberous sclerosis gene analysis Type 1

Test Code: 712750 Genetik Tanı Testleri - Gen: TSC1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Tuberous sclerosis TSC1 / TSC2 Gene Analysis

Test Code: 714180 Genetik Tanı Testleri - Gen: TSC1/TSC2

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Type 2 Diabetes Mellitus, Insulin Resistance, IRS1 Gene Analysis

Test Code: 716360 Genetik Tanı Testleri - Gen: IRS1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Type A Insulin Resistance Syndrome, Rabson-Mendenhall Syndrome, INSR Gene Analysis

Test Code: 716370 Genetik Tanı Testleri - Gen: INSR

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Tyrosine 1 (Hepatorenal Tyrosinemia - Fumaryl Acetoacetase Incomplete), FAH Gene Analysis

Test Code: 715780 Genetik Tanı Testleri - Gen: FAH

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Unverricht-Lundborg Disease, CSTB Gene Analysis

Test Code: 714250 Genetik Tanı Testleri - Gen: CSTB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Valproate Sensitivity, OTC Gene Analysis

Test Code: 715820 Genetik Tanı Testleri - Gen: OTC

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Vitamin D Dependent Rickets Gene Analysis

Test Code: 713360 Genetik Tanı Testleri - Gen: CYP27B1, CYP2R1, VDR

Method : NGS / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Vohwinkel Syndrome, GJB2 Gene Analysis

Test Code: 716650 Genetik Tanı Testleri - Gen: GJB2

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Von Gierke Disease, G6PC Gene Analysis

Test Code: 715830 Genetik Tanı Testleri - Gen: G6PC

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Von Hippel Lindau Gene Analysis

Test Code: 712850 Genetik Tanı Testleri - Gen: VHL

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Von Willebrand Disease Gene Analysis

Test Code: 712860 Genetik Tanı Testleri - Gen: VWF

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Warfarin Resistance CYP2C9 Genetic Polymorphism Analysis

Test Code: 712870 Genetik Tanı Testleri - Gen: CYP2C9

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Warfarin Resistance VKORC1 Polymorphism Analysis

Test Code: 712880 Genetik Tanı Testleri - Gen: VKORC1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Wilms Tumour suppressor (WT1) mutation Isolated NS, Denys-Drash syndrome

Test Code: 713890 Genetik Tanı Testleri - Gen: WT1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Wilson disease gene analysis

Test Code: 712890 Genetik Tanı Testleri - Gen: ATP7B

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Wiskott-Aldrich Syndrome Gene Analysis

Test Code: 712900 Genetik Tanı Testleri - Gen: WAS

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Wolf-Hirschhorn Syndrome, MSX1 Gene Analysis

Test Code: 715960 Genetik Tanı Testleri - Gen: MSX1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Wolfram Syndrome Type 1, WFS1 Gene Analysis

Test Code: 715980 Genetik Tanı Testleri - Gen: WFS1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

X-linked Adrenoleukodystrophy (ALD)

Test Code: 712910 Genetik Tanı Testleri - Gen: ABCD1

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

X-linked Congenital Adrenal Hypoplasia Gene Analysis

Test Code: 713320 Genetik Tanı Testleri - Gen: NROB

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

X-linked Hypophosphatemic Rickets Gene Analysis

Test Code: 713350 Genetik Tanı Testleri - Gen: PHEX

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

X-linked Lymphoproliferative Syndrome Whole Gene Analysis

Test Code: 713600 Genetik Tanı Testleri - Gen: XIAP

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

X-linked Panhipopituitarism, SOX3 Gene Analysis

Test Code: 716380 Genetik Tanı Testleri - Gen: SOX3

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Xeroderma pigmentosa

Test Code: 713160 Genetik Tanı Testleri - Gen: XPC, ERCC2, POLH

Method : NGS / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Xeroderma Pigmentosa, ERCC5 Gene Analysis

Test Code: 715970 Genetik Tanı Testleri - Gen: ERCC5

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 45 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Y chromosome microdeletion analysis

Test Code: 712920 Genetik Tanı Testleri - Gen: AZF

Method : Fragment Analysis / Working Days : Everyday / Report Duration : 15 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Zellweger Syndrome, Peroxisome Biosynthesis Disorder, HSD17B4 Gene Analysis

Test Code: 715840 Genetik Tanı Testleri - Gen: HSD17B4

Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample Name	Tube	Quantity	Transport
BloodEDTA	Purple cap tube	2-5 ml	18-24 °C

Test Code	Gen Name	Test Name
714910	MCCC1	3 - Methylcrotonyl CoA Carboxylase 1 Deficiency, MCCC1 Gene Analysis
714900	HADH	3-Hydroxy Acyl COA Dehydrogenase Deficiency, HADH Gene Analysis
712930	SRD5A2	5 Alpha Reductase Deficiency Gene Analysis
714450	MTTP	Abetalipoproteinemia, MTTP Gene Analysis
711180	FGFR3	Achondroplasia Target Mutation Analysis
711190	FGFR3	Achondroplasia Target Mutation Analysis, Prenatal
715050	GBA	Acid Beta Glucosidase Deficiency (Gaucher's Disease-Glucoserebrozidase Deficiency), GBA Gene Analysis
716390	TGM5	Acral Peeling Skin Syndrome, TGM5 Gene Analysis
714960	HMBS	Acute Intermittent Porphyria, HMBS Gene Analysis
711200	CEBPA	Acute Myeloid Leukaemia (AML) CEBPA Gene Analysis
711210	NPM1	Acute Myeloid Leukaemia (AML) NPM1 Exon 12 Gene Analysis
714930	APRT	Adenosine Phosphoribosyl Transferase Deficiency, APRT Gene Analysis
714920	ADSL	Adenylosuccinase Deficiency, ADSL Gene Analysis
711100	ALDOB	Ailesel Fruktoz İntoleransı (Aldolaz B)
713670	GFAP	Alexander's Disease
714980	OGDH	Alfa Ketoglutarate Dehydrogenase Deficiency, OGDH Gene Analysis
711230	HBA1, HBA2	Alfa Thalassemia HBA1, HBA2, Prenatal
712940	HGD	Alkaptonuria Gene Analysis
714990	HGD	Alkaptonuria, HGD Gene Analysis
714520	-	Alpers Huttenlocher Syndrome, mtDNA Analysis
714970	ACAT1	Alpha - Methyl acetoacetic Aciduria (Beta Ketothiolase Deficiency), ACAT1 Gene Analysis
711260	SERPINA1	Alpha 1 Antitrypsin Deficiency
711220	HBA1, HBA2	Alpha Thalassemia HBA1, HBA2 Gene Analysis
711240	HBA1, HBA2	Alpha Thalassemia HBA1, HBA2 Genetic Deletion, Duplication Analysis
711250	HBA1, HBA2	Alpha Thalassemia HBA1, HBA2 Genetic Deletion, Duplication Analysis, Prenatal
714750	C9orf72, SOD1, TARDBP, FUS	ALS (Amyotrophic Lateral Sclerosis) C9orf72, SOD1, TARDBP, FUS (WES Analysis)
713630	PSEN1	Alzheimer's Disease Type 3
713640	PSEN2	Alzheimer's Disease Type 4
711790	GATA1	AML Gene Analysis Associated with Down Syndrome
714120	ALB	Analbuminuria ALB Gene Analysis
711270	ACE	Angiotensin-ACE ins/del (ID) Polymorphism Analysis
711280	HLA-B27	Ankylosing Spondylitis HLA B27 Analysis
712950	SERPINC	Antithrombin 3 Deficiency
711290	Apo B	Apo B Target Mutation Analysis
711300	Apo E	Apo E Gene Genotype Analysis
716060	-	Apolipoprotein C2 Deficiency, Hyperlipoproteinemia 1B,
715000	ARG1	Argininemi, ARG1 Gene Analysis
715020	ASL	Argininosuccinic Aciduria, ASL Gene Analysis
715010	ASS1	Arginosuccinate Synthetase Deficiency, ASS1 Gene Analysis
713930	ARHGDIA	ARHGDIA Gene Mutations
715040	ARSB	Aryl Sulfatase B Deficiency (MPS Type 6), ARSB Gene Analysis
714430	APTX	Ataxia Ocular Apraxia, Type 1, APTX Gene Analysis
714440	SETX	Ataxia Ocular Apraxia, Type 2 (Oculomotor Apraxia Type 1) SETX Gene Analysis
711310	ATM	Ataxia Telangiectasias
714100	CFH	Atypical Haemolytic Uremic Syndrome CFH Gene Analysis
714110	MCP/CD46	Atypical Haemolytic Uremic Syndrome MCP / CD46 Gene Analysis
713820	AIRE	Autoimmune Polyendocrinopathy Syndrome Type 1
713340	FGF23	Autosomal Dominant Familial Hypophosphatemic Rickets Gene Analysis
714080	CASR	Autosomal Dominant Hypocalcaemia CASR Gene Analysis
716290	GNA11	Autosomal Dominant Hypokalaemia GNA11 Gene Analysis
714060	FXYD2	Autosomal Dominant Isolated Magnesuria FXYD2 Gene Analysis
716300	CLCN7	Autosomal Dominant Osteopetrosis, CLCN7 Gene Analysis
712530	TNFRSF1A	Autosomal Dominant Periodic Fever (TRAPS) Gene Analysis
713330	DMP1	Autosomal Recessive Familial Hypophosphatemic Rickets Gene Analysis
714070	EGF	Autosomal recessive isolated magnesuria EGF Gene Analysis
716410	GJB2	Bart-Pumphrey Syndrome, GJB2 Gene Analysis
713940	SLC12A1	Bartter Syndrome Type 1 (SLC12A1) Gene Analysis
713950	KCNJ1	Bartter Syndrome Type 2 (KCNJ1) Gene Analysis
713960	CLCNKB	Bartter Syndrome Type 3 (CLCNKB) Gene Analysis
713970	BSND	Bartter Syndrome Type 4 (BSND) Gene Analysis
713980	CASR	Bartter Syndrome Type 5 (CASR) Gene Analysis
713990	CLCNKA/B	Bartter Syndrome Type 6 (4b) (CLCNKA / B)
715850	CDKN1C	Beckwith-Wiedemann Syndrome, CDKN1C Gene Analysis
715860	CDKN1C	Beckwith-Wiedemann Syndrome, Methylation Analysis
711320	HLA B5	Behcet's Disease, HLA Analysis
711330	HBB	Beta Thalassemia (Familial Mediterranean Anaemia) HBB Gene Analysis
711340	HBB	Beta Thalassemia (Familial Mediterranean Anaemia) HBV Gene Analysis, Prenatal
713260	BTD	Biotinidase Deficiency Gene Analysis
716420	FLCN	Birt-Hogg-Dubé Syndrome, FLCN Gene Analysis
714190	NOD2	Blau Syndrome NOD2 Gene Analysis
711380	BRAF	BRAF Gene Analysis
715870	TFAP2A	Branchio - Oculo - Facial Syndrome, TFAP2A Gene Analysis
8392130	APC, MUTYH OMIM:236548	BRCA1
711410	BRCA1, BRCA2	BRCA1 / BRCA2 Genetic Deletion Duplication Analysis
711400	BRCA1/BRCA2	BRCA2 Gene Analysis
713430	C1QA, C1QB, C1QC	C1q Complement Deficiency Gene Analysis
711420	NOTCH3	Cadasil Disease Selected Exon Analysis
712320	CALR	CALR Gene Mutation Analysis in Myeloproliferative Diseases
711430	ASPA	Canavan Disease
715420	CPS1	Carbamoyl Phosphate Synthetase Type 1 Deficiency, CPS1 Gene Analysis
714150	CA5A	Carbonic Anhydrase 5A Deficiency CA5A Gene Analysis
712000	-	Cardiovascular Risk Panel
715430	CPT2	Carnitine Palmitoyl Transferase (CPT II) Deficiency, Hepatic, CPT2 Gene Analysis
715890	RAB23	Carpenter Syndrome, RAB23 Gene Analysis
711450	CDKN2A	CDKN2A Gene Analysis
711510	HLA-DQ	Celiac Disease, HLA Genotype Analysis (HLA-DQ2 and HLA-DQ8)
714030	AVP	Central (neurohypophysial) Diabetes Insipidus AVP Gene Analysis
714570	DNM2, BIN1, TTN	Centronuclear Myopathy, DNM2, BIN1, TTN (WES Analysis)
715700	GAMT	Cerebral Creatinine Deficiency Syndrome Type 2, GAMT Gene Analysis
715710	CYP27A1	Cerebralendinous Xanthomatosis, CYP27A1 Gene Analysis
711460	PMP22	Charcot Marie Tooth Type 1A Deletion, Duplication Analysis
711480	MPZ	Charcot Marie Tooth Type 1B Gene Analysis
714580	LITAF	Charcot Marie Tooth Type 1C, LITAF Gene Analysis
714590	EGR2	Charcot Marie Tooth Type 1D, EGR2 Gene Analysis
711490	PMP22	Charcot Marie Tooth Type 1E Gene Analysis
714600	NEFL	Charcot Marie Tooth Type 1F NEFL Gene Analysis
714860	DNM2	Charcot Marie Tooth Type 2, DNM2 Gene Analysis
714610	MFN2,KIF1B	Charcot Marie Tooth Type 2A, MFN2, KIF1B, WES Analysis
714620	RAB7A	Charcot Marie Tooth Type 2B, RAB7A Gene Analysis
714830	LMNA	Charcot Marie Tooth Type 2B1, LMNA Gene Analysis
714630	TRPV4	Charcot Marie Tooth Type 2C, TRPV4 Gene Analysis
714640	BSCL2	Charcot Marie Tooth Type 2D BSCL2 Gene Analysis
714840	NEFL	Charcot Marie Tooth Type 2E NEFL Gene Analysis
714850	MPZ	Charcot Marie Tooth Type 2I, 2J Gene Analysis
714650	GDAP1	Charcot Marie Tooth Type 2K, GDAP1 Gene Analysis
714660	HSP88	Charcot Marie Tooth Type 2L, HSP88 Gene Analysis
714870	GDAP1	Charcot Marie Tooth Type 4A, GDAP1 Gene Analysis
714670	MTMR2	Charcot Marie Tooth Type 4B1, MTMR2 Gene Analysis
714680	SBF2	Charcot Marie Tooth Type 4B2, SBF2 Gene Analysis
714690	SH3TC2	Charcot Marie Tooth Type 4C, SH3TC2 Gene Analysis
714700	-	Charcot Marie Tooth Type 4D, NDRG1 Gene Analysis
714880	EGR2	Charcot Marie Tooth Type 4E, EGR2 Gene Analysis
714710	PRX	Charcot Marie Tooth Type 4F, PRX Gene Analysis
714720	FGD4	Charcot Marie Tooth Type 4H, FGD4 Gene Analysis
714730	FIG4	Charcot Marie Tooth Type 4J, FIG 4 Gene Analysis
711470	GJB1	Charcot Marie Tooth X-dependent Dominant Type Gene Analysis
714740	PRPS1	Charcot Marie Tooth X-linked Type 5 (CMTX5) PRPS1 Gene Analysis
716430	NSDHL	CHILD Syndrome, NSDHL Gene Analysis
715450	LIPA	Cholesterol Ester Depot Disease (Wolman's Disease), LIPA Gene Analysis
731100	-	Chromosome Analysis; Abort Material
731110	-	Chromosome Analysis; Amnion Fluid
721110	-	Chromosome Analysis; Bone marrow
731130	-	Chromosome Analysis; Chorionic villus sampling (CVS)
731120	-	Chromosome Analysis; Fetal Blood (Cordon Sampling)
721100	-	Chromosome Analysis; Hemato-oncological (Peripheral Blood)
721120	-	Chromosome Analysis; Peripheral Blood
721130	-	Chromosome Analysis; Solid Tissue (Skin Tissue etc.)
712560	PDGFRA	Chronic Eosinophilic Leukaemia Selected Exon Analysis
715730	ASS1	Citrulinaemia Type 1 - Classical citrulinaemia, ASS1 Gene Analysis
712350	PPT1	CLN Disease Type 1 (Neuronal Ceroid-Lipofuscinoses 1)
712360	TPP1	CLN Disease Type 2 (Neuronal Ceroid-Lipofuscinoses 2)
712370	CLN3	CLN Disease Type 3 (Neuronal Ceroid-Lipofuscinoses 3)
714260	DNAJC5	CLN Disease Type 4 (Neuronal Ceroid-Lipofuscinoses 3)
715900	ERCC	Cockayne Syndrome, ERCC Gene Analysis
715910	VPS13B	Cohen Syndrome, VPS13B Gene Analysis (WES)
713490	EGFR, BRAF, KRAS, TP53, PTEN, HRAS, SMAD4, ATM, APC, NRAS, PIK3CA, ERBB2, AKT1	Colorectal Cancer Liquid Biopsy Panel
713500	MLH1, MLH3, MSH2, MSH6, PMS1, PMS2, KRAS, EGFR, PIK3CA, BRAF, APC, P53, BMPR1A, MUTYH, PTEN, SMAD4, STK11, EPCAM	Colorectal Cancer Panel
712990	POU1F1	Combined Hypophyseal Hormone Deficiency Type 1 Gene Analysis
713000	PROP1	Combined Hypophyseal Hormone Deficiency Type 2 Gene Analysis
715460	EARS2	Combined Oxidative Phosphorylation Deficiency Type 12, EARS2 Gene Analysis
716220	HESX1	Combined Pituitary Hormone Deficiency, HESX1 Gene Analysis
713300	CYP11B1	Congenital Adrenal Hyperplasia 11- Beta Hydroxylase Deficiency Gene Analysis
713310	CYP17A1	Congenital Adrenal Hyperplasia 17- Alpha Hydroxylase Incomplete Gene Analysis
716230	HSD3B2	Congenital Adrenal Hyperplasia 3-Beta Hydroxysteroid Dehydrogenase Deficiency HSD3B2, Gene Analysis
712040	CYP21A2	Congenital Adrenal Hyperplasia Gene Analysis- 21 hydroxylase deficiency
712050	CYP21A2	Congenital Adrenal Hyperplasia Gene Deletion Duplication Analysis-21 hydroxylase deficiency
712570	PHOX2B	Congenital Central Hypoventilation Syndrome Gene Analysis
712080	Connexin 26 (GJB2)	Congenital Deafness Gene Analysis
711440	CDAN1	Congenital Diserthropoietic Anaemia
713790	PMM2	Congenital Glycosylation Disorder Type 1a (Cdg1a)
713170	WES	Congenital Ichthyosis Panel
716240	STAR	Congenital Lipoid Adrenal Hyperplasia, STAR Gene Analysis
713850	-	Congenital Nephrotic Syndrome Gene Analyses
712060	ELANE (ELA2)	Congenital Neutropenia Gene Analysis
712070	HAX1	Congenital Neutropenia Type 3 Gene Analysis
711500	HRAS	Costello Syndrome
715470	SLC6A8	Creatinine Deficiency Syndrome, X-linked, SLC6A8 Gene Analysis
713190	WES	Cutis Laksa Panel
8392130	APC, MUTYH	cyctic fibrosis
712030	CFTR	Cystic Fibrosis Deletion Duplication Analysis
712010	CFTR	Cystic Fibrosis Gene Analysis
712020	CFTR	Cystic Fibrosis Gene Analysis, Prenatal
715720	SLC3A1	Cystinuria, SLC3A1 Gene Analysis
715060	D2HGDH	D - 2 - Hydroxyglutaric Aciduria Type 1, D2HGDH Gene Analysis
716440	ATP2A2	Darier's Disease, ATP2A2 Gene Analysis
721140	-	DEB TEST-FANCON ANEMIA
715030	ARSA	Deficiency of Aryl Sulfatase (Metachromatic Leukodystrophy), ARSA Gene Analysis
711520	INS	Diabetes Mellitus Type 1 Gene Analysis
713450	RPS19	Diamond Blackfan Anaemia Gene Analysis
715070	DLD	Dihydrolipoamide Dehydrogenase (E3) Deficiency (Pyruvate Dehydrogenase E3 Deficiency), DLD Gene Analysis
714130	TPM2	Distal Arthrogryposis Type 1 TPM2 Gene Analysis
714140	SLC4A1	Distal Renal Tubular Acidosis SLC4A1 Gene Analysis
716450	KRT5, POFUT1, POGLUT1	Dowling-Degos Disease, KRT5, POFUT1, POGLUT1 Gene Analysis
713650	SCN1A	Dravet Syndrome
711540	DMD	Duchenne Muscular Dystrophy (DMD) Dystrophin Gene Analysis
711550	DMD	Duchenne Muscular Dystrophy (DMD) Dystrophin Gene Delays Duplication Analysis
711560	DMD	Duchenne Muscular Dystrophy (DMD) Dystrophin Gene Delays Duplication Analysis, Prenatal
714390	SGCE	DYT11, SGCE Gene Analysis
714400	ATP1A3	DYT12, ATP1A3 Gene Analysis
714410	PRKRA	DYT16, PRKRA Gene Analysis
714360	CIZ1	DYT23, CIZ1 Gene Analysis
714370	GNAL	DYT25, GNAL Gene Analysis
714340	TUBB4	DYT4, TUBB4 Gene Analysis
714380	GCH1	DYT5, GCH1 Gene Analysis
714350	THAP1	DYT6, THAP1 Gene Analysis
714420	MR1	DYT8, MR1 Gene Analysis
711580	CDH1	E-cadherin (Hereditary Diffuse Gastric Carcinoma)
714010	KCNJ10	EAST (KCNJ10) Gene Analysis
711590	EGFR	EGFR Target Mutation Analysis
713200	WES	Ehlers Danlos Panel
716480	-	Epidermolysis Bulkola Panel, Exomal Analysis
713180	WES	Epidermolysis Bullosa Panel
716470	COL7A1	Epidermolysis Bulloza Dystrophic (OR Pass), COL7A1 Gene Analysis
716490	KRT5, KRT14	Epidermolysis Bulloza Simplex, KRT5, KRT14 Gene Analysis
716460	KRT1, KRT10	Epidermolytic Hyperkeratosis, KRT1, KRT10 gene Analysis
715080	UROS	Erythropoetic Porphyria, UROS Gene Analysis
711610	Tüm Ekzon	Exome Sequencing, Mother, Father, Child
711630	Tüm Ekzon	Exome Sequencing, Mother, Father, Child, CNV (copy number variations)
711600	Tüm Ekzon	Exome Sequencing, Single Individual
711620	Tüm Ekzon	Exome Sequencing, Single Individual, CNV (copy number variations)
711640	GLA	Fabry Disease
715090	GLA	Fabry Disease, GLA Gene Delay Analysis
713560	F7	Factor 7 Deficiency Gene Analysis
711650	FII	Factor II (Prothrombin) Polymorphism Analysis
711660	FV	Factor V Cambridge Polymorphism Analysis
711670	FV	Factor V H1299R Polymorphism Analysis
711680	FV	Factor V_Leiden Polymorphism
711690	FXIII	Factor XIII Polymorphism Analysis
711110	APC	Familial Adenomatous Polyposis (FAP)
8392130	APC, MUTYH	Familial Adenomatous Polyposis (FAP) APC and MUTYH Gene Analysis
712960	PRF1	Familial Hemophagocytic Lymphohistiocytosis Type 2 Gene Analysis
716000	CYP11B2	Familial Hyperaldosteronism Type 1, CYP11B2
711120	APOB, LDLR, LDLRAP1, PCSK9	Familial Hypercholesterolaemia Panel
716010	ABCC8	Familial Hyperinsulinemic Hypoglycaemia Type 1, ABCC8 Gene Analysis
715990	KCNJ5	Familial Hyperlepterodenosis (Glucocorticoid Correctable Aldosteronism) Type 3, KCNJ5
714940	APOE	Familial Hyperlipidaemic Hypercholesterolemia, APOE Gene Analysis
714040	CLDN16,CLDN19	Familial hypomagnesemia hypercalciuria and nephrocalcinosis CLDN16, CLDN19 Gene Analysis
716030	GCM2	Familial Isolated Hypoparathyroidism, GCM2 Gene Analysis
716040	PTH	Familial Isolated Hypoparathyroidism, PTH Gene Analysis
716020	AIP	Familial Isolated Pituitary Adenoma (FIPA), AIP Gene Analysis
716050	LPL	Familial Lipoprotein Lipase Deficiency, LPL Gene Analysis
711170	MEFV	Familial Mediterranean Fever (FMF)
711140	MEFV	Familial Mediterranean Fever (FMF) (selected exon)
711160	MEFV	Familial Mediterranean Fever (FMF) (Target Mutation Analysis 10 Mutation)
711150	MEFV	Familial Mediterranean Fever (FMF) (Target Mutation Analysis 5 Mutation)
716400	CARD14	Familial Pityriasis Rubra Pilaris, CARD14 Gene Analysis
714890	PMP22	Familial Pressure Sensitive Neuropathy (Tomacular Neuropathy), PMP22 Gene Analysis
715100	SLC2A2	Fanconi - Bickel Syndrome, SLC2A2 Gene Analysis
715110	ASAH1	Farber Disease / Lipogranulomatosis (Ceramidase Deficiency / Acid Ceramidase Deficiency), ASAH1 Gene Analysis
715120	SLC52A3	Fazio - Londe Disease, SLC52A3 Gene Analysis
711710	FGFR2	FGFR2 Gene Analysis (craniosynostoses syndromes)
711720	FGFR3	FGFR3 Gene Analysis
715140	SLC17A5	Finnish Type Sialüri (Infantile Sialyri-Salla Disease-Nana Warehouse Disease-Sialic Acid Depot Disease), SLC17A5 Gene Analysis
741120	-	FISH 1p36 (1p36 Microdeletion Syndrome)
741130	N-MYC	FISH 2p24.3 (N-MYC)
741140	ALK	FISH ALK Rearrangements
741150	-	FISH ALL Panel
741160	-	FISH AML/MDS Panel
741820	C-MET	FISH C-MET Amplification (7q31)
741740	MYC	FISH C-MYC (8q24 Rearrangement)
741200	-	FISH CHARGE Syndrome (8q12.2 Microdeletion)
741360	-	FISH Chimerism, X/Y Analysis with FISH, Different Sex Transplantation
741210	-	FISH Cri Du Chat Syndrome (5p Microdeletion)
741220	ATM	FISH del 11q22.3 (ATM)
741230	RB1	FISH del 13q14 (RB1)
741240	-	FISH del 13q34
741290	TP53	FISH del 17p13.1 (P53)
	-	FISH del 1p32.3/1q21.3 (CKS1B/CDKN2C)
741250	-	FISH del 20q
741260	EGR1	FISH del 5q (EGR1)
741270	-	FISH del 7q
741280	P16	FISH del 9p21 (P16)
741830	-	FISH del(1p19q)(1p36/1q25)(19p13/19p13)
741310	-	FISH DiGeorge Syndrome (22q11.2 Microdeletion)
741800	EGFR	FISH EGFR Amplification (7p11.2)
741810	EML4	FISH EML4 (2p21 Rearrangement)
741450	PDGFRA	FISH FIP1L1/CHIC2/PDGFRA (4q12 Rearrangements)
741320	EBB2	FISH HER2/NEU (ERBB2)
741330	IGH	FISH IGH (14q32 Rearrangement)
741340	CBFB/MYH11	FISH inv(16) t(16;16) (CBFB/MYH11)
	MECOM	FISH inv3 t(3;3) (MECOM)
741350	-	FISH Kallmann Syndrome (Xp22.3 Microdeletion)
741370	-	FISH KLL panel
741720	-	FISH MALT1 (18q21 Rearrangement)
741380	-	FISH Miller-Dieker Syndrome (17p13 Microdeletion)
741300	MLL	FISH MLL (11q23 Rearrangement)
741690	-	FISH Monosomy / Trisomy 12
741690	IGH/BCL2	FISH Monosomy / Trisomy 12
741730	-	FISH Monosomy / Trisomy 8
741410	-	FISH Monosomy, Trisomy 4
741400	-	FISH Monosomy, Trisomy 5
741420	-	FISH Monosomy, Trisomy 7
741390	-	FISH Monosomy, Trisomy X
	-	FISH Multiple Myeloma panel
741440	-	FISH NHL (Non Hodgkin Lymphoma) panel
741460	PDGFRB	FISH PDGFRB Analysis
741470	SNRPN	FISH Prader-Willi / Angelman Syndrome (SNRPN) (15q11.2-q13 Microdeletion)
741480	-	FISH Preimplantation genetic diagnosis-chromosome aneuploidy and ploidy research
741490	-	FISH Preimplantation genetic diagnosis-reciprocal chromosome translocation
741500	-	FISH Preimplantation genetic diagnosis-robertsonian translocation
741170	-	FISH Rapid Aneuploidy (13,18,21, X, Y)
741510	ROS1	FISH ROS1 (6q22 Rearrangement)
741520	-	FISH Rubinstein Taybi Syndrome (16p13 Microdeletion)
741530	-	FISH Seathre-Chotzen Syndrome (7p21 Microdeletion)
741540	SHOX	FISH SHOX Deletion
741550	-	FISH Smith-Magenis Syndrome (17p11 Microdeletion)
741560	-	FISH SOTOS Syndrome (5q35.3 Microdeletion)
741570	SRY	FISH SRY Analysis
741580	-	FISH Subtelomeric Probe Single Chromosome
741580	-	FISH Subtelomeric Probes Two Chromosomes
741600	-	FISH Subtelomeric Screening (All Chromosomes)
741620	TCF3(E2A)/PBX1	FISH t(1;19) (TCF3(E2A)/PBX1))
741680	CCND1/IGH	FISH t(11;14) (CCND1/IGH)
741190	IGH/MYEOV	FISH t(11;14) (IGH/MYEOV)
741100	MLL/MLLT1	FISH t(11;19) (MLL/MLLT1)
741630	TEL/AML1 (ETV6/RUNX1)	FISH t(12;21) TEL/AML1 (ETV6/RUNX1)
741640	IGH/MAF	FISH t(14;16) (IGH/MAF)
741710	PML/RARA	FISH t(15;17) (PML/RARA)
741780	IGK/MYC	FISH t(2;8) (IGK/MYC)
741110	MLL/AFF1	FISH t(4;11) (MLL/AFF1)
741650	IGH/FGFR3	FISH t(4;14) (IGH/FGFR3)
741750	MYC/IGH	FISH t(8;14) (MYC/IGH)
741760	AML1/ETO	FISH t(8;21) (AML1/ETO)
741180	-	FISH t(8;22) (IGL/MYC)
741790	MLL/MLLT3	FISH t(9;11) (MLL/MLLT3)
741770	BCR/ABL	FISH t(9;22) (BCR/ABL)
741610	-	FISH trisomy 21
741660	-	FISH Williams Syndrome (7q11.23 Microdeletion)
741670	-	FISH Wolf-Hirschhorn Syndrome (4p16.3 Microdeletion)
715150	LCAT	Fish-Eye Disease, LCAT Gene Analysis
711730	FLT3	FLT3 Gene ITD (Internal tandem duplication) Analysis
711740	FLT3	FLT3 Gene Target Mutation Analysis
716500	PORCN	Focal Dermal Hypoplasia, PORCN Gene Analysis
711750	FMR1	Fragile X FMR1 Gene CGG Triple Repeat Analysis
711760	FXN	Friedreich Ataxia FXN Gene GAA Triple Repeat Analysis
711770	FBP1	Fructose 1,6 Bisphosphatase Deficiency
715170	FUCA1	Fucosidosis, FUCA1 Gene Analysis
715180	FH	Fumarase Deficiency, FH Gene Analysis
711780	GALK1	Galactokinase Deficiency
715200	GALT	Galactose - 1 - Phosphate Uridyl Transferase Deficiency (Galactoseemia Type 1- GALT Deficiency), GALT Gene Analysis
715210	GALE	Galactose Epimerase Deficiency, GALE Gene Analysis
713280	GALT	Galactoseemia Gene Analysis
715220	GALK1	Galactoseemia Type 2, GALK1 Gene Analysis
715190	CTSA	Galactosialidosis, CTSA Gene Analysis
711800	GBA	Gaucher Disease Gene Analysis
711810	UGT1A1	Gilbert Syndrome Gene Analysis
714000	SLC12A3	Gitelman Syndrome (SLC12A3) Gene Analysis
711830	G6PD	Glucose 6 Phosphate Dehydrogenase Deficiency (Favism)
711840	SLC2A1	GLUT1 Deficiency (Glucose Transporter Defect Type 1)
715260	SLC2A1	Glut1 Deficiency Syndrome Type 2, SLC2A1 Gene Analysis
715270	ETFA	Glutaric Aciduria - Glutaric Acidaemia Type 2 (Multiple Acyl Coa Dehydrogenase), ETFA Gene Analysis
713680	GCDH	Glutaric Aciduria Type 1
715240	GK	Glycerol Kinase Deficiency, GK Gene Analysis
715250	AMT	Glycine Encephalopathy, Nonketotic hyperglycinemia AMT Gene Analysis
715230	WES	Glycogen Depot Disease Panel (WES Analysis)
711850	GLB1	GM1 Gangliosidosis Target Mutation Analysis
715280	GLB1	GM1 Gangliosidosis Type 1, Type 2 and Type 3, GLB1 Gene Analysis
715290	HEXA	GM2 Gangliosidosis Type 1 Hexosaminidase Deficiency, HEXA Gene Analysis
714460	-	GM2 Gangliosidosis, GM2A Gene Analysis
715300	BCS1L	Gracile Syndrome, BCS1L Gene Analysis
713440	CYBA, CYBB, NCF1, NCF2, NCF4	Granulomatosis Chronic Disease Gene Analysis
711860	RAB27A	Griscelli Syndrome Type 2 Gene Analysis
715880	GHR	Growth Retardation, Laron's syndrome, GH Gene Analysis
711880	F8	Haemophilia A F8 Gene Analysis
711890	F8	Haemophilia A F8 Genetic Deletion Duplication Analysis
711900	F9	Haemophilia B F9 Gene Analysis
711910	F9	Haemophilia B F9 Genetic Delusion Duplication Analysis
715310	HLCS	Halocarboxylase Synthetase Deficiency, HLCS Gene Analysis
714470	SLC6A19	Hartnup's disease, SLC6A19 Gene Analysis
715320	HPD	Hawkinsinuria, HPD Gene Analysis
714270	PRRT2	Hemiplegic Migraine, Ataxia, Infantile Convulsions, PRRT2 Gene Analysis
711870	HFE	Hemochromatosis Target Mutation Analysis (18 mutations)
713580	UNC13D	Hemophagostic Lymphohistiocytosis Type 3
713570	STX11	Hemophagostic Lymphohistiocytosis Type 4
716070	LIPC	Hepatic Lipase Deficiency (dyslipidaemia), LIPC Gene Analysis
715920	SLC39A4	Hereditary Acrodermatitis Enteropathy, SLC39A4 Gene Analysis
713530	53 Gen	Hereditary Gynecological Cancer Panel
715330	HFE	Hereditary Hemochromatosis, HFE Gene Analysis
714810	SEPT9	Hereditary Neuralgic Amyotrophy (HNA), SEPT9 Gene Analysis
713410	CSF3R	Hereditary Neutrophilia Gene Analysis
711940	MLH1, MSH2, MSH6, PMS2	Hereditary Non Polyposis Cancer Panel
713690	PRSS1	Hereditary pancreatitis
713700	SPINK1	Hereditary pancreatitis
716170	SDHD	Hereditary Paraganglioma / Pheochromocytoma Type 1, SDHD Gene Analysis
716180	SDHAF2	Hereditary Paraganglioma / Pheochromocytoma Type 2, SDHAF2 Gene Analysis
716190	SDHC	Hereditary Paraganglioma / Pheochromocytoma Type 3, SDHC Gene Analysis
716200	SDHB	Hereditary Paraganglioma / Pheochromocytoma Type 4, SDHB Gene Analysis
714790	WNK1	Hereditary Sensory Autonomic Neuropathy Type 2A (HSAN2A), WNK1 Gene Analysis
714800	RETREG1	Hereditary Sensory Autonomic Neuropathy Type 2B (HSAN2B), RETREG1 Gene Analysis
714780	NGF	Hereditary Sensory Autonomic Neuropathy Type 5 (HSAN5), NGF Gene Analysis
714770	DNMT1	Hereditary Sensory Autonomic Neuropathy Type1E (HSAN1E), DNMT1 Gene Analysis
714760	SPTLC1	Hereditary Sensory Neuropathy Type1A, SPTLC1 Gene Analysis
712970	SPAST	Hereditary Spastic Paraplegia Type 4 Gene Analysis
715380	HMGCL	HMG-CoA Lyase Incomplete, HMGCL Gene Analysis
715390	HMGCS2	HMG-CoA Synthase 2 Deficiency, HMGCS2 Gene Analysis
713740	TBX5	Holt Oram Syndrome
715400	CBS	Homocystinuria, connected to cystathionine beta Synthase Deficiency, CBS Gene Analysis
711950	HTT	Huntington's Disease CAG Triple Repeat Analysis
712980	GJB6	Hydrotic Ectodermal Dysplasia Type 2
713710	MVK	Hyper Igd Syndrome
713720	DOCK8	Hyper-Ige Syndrome (AR)
715340	CETP	Hyperalphalipoproteinemia, CETP Gene Analysis
716080	LDLR	Hypercholesterolemia, LDLR Gene Analysis
715350	MTRR	Hyperhomocysteinemia / homocystinuria cblE Type, MTRR Gene Analysis
715360	ALDH4A1	Hyperprolinemia Type 2, ALDH4A1 Gene Analysis
713810	FTL	Hyperserotonaemia-Cataract Syndrome
716100	GNRHR	Hypogonadotropic Hypogonadism, GNRHR Gene Analysis
716110	GNRH1	Hypogonadotropic Hypogonadism, Gonadotropin Releasing Hormone 1 Deficiency, GNRH1 Gene Analysis
716120	LHB	Hypogonadotropic Hypogonadism, Insulated Lutrophin Deficiency, Luteinizing Hormone Beta, LHB Gene Analysis
716130	KISS1	Hypogonadotropic Hypogonadism, KISS1 Gene Analysis
716140	FSHB	Hypogonadotropic Hypogonadism, Polycystic Over Syndrome, Follicle Stimulated Hormone Deficiency, Follicle Stimulating Hormone Beta, FSHB Gene Analysis
716510	EDA, EDAR, EDARADD	Hypohydrotic Ectodermal Dysplasia, EDA, EDAR, EDARADD Gene Analysis
716090	ALPL	Hypophosphatasia, ALPL Gene Analysis
716520	DSG4	Hypotrichosis, DSG4 Gene Analysis
715370	HPRT	Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency, HPRT Gene Analysis
716530	-	Ichthyosis, Exome Analysis
713380	CYP24A1, SLC34A1	Idiopathic Infantile Hypercalcemia 1-2 Gene Analysis
711960	ABL1	Imatinib (Gleevec) Resistance Mutation Analysis
716540	NFKBIA	Immunodeficiency Anhidrotic Ectodermal Dysplasia, Autosomal Dominant, NFKBIA Gene Analysis
711970	CBFB-MYH11	inv 16 (p13; q22) CBFB-MYH11 Fusion transcript
716150	FOXP3	IPEX Syndrome (Immunodisregulation, Polyendocrinopathy and Enteropathy, Dependent to X), FOXP3 Gene Analysis
716160	GNAS1	Isolated Familial Somatotropinoma (IFS), GNAS1 Gene Analysis
713390	GH1, GHRHR, BTK	Isolated Growth Hormone Deficiency Gene Analysis
715410	IVD	Isovaleric Acidaemia, IVD Gene Analysis
711980	JAK2	JAK2 Gene Selected Exon Analysis
711990	JAK2	JAK2 Gene Target Mutation Analysis
713660	PARKN	Juvenile Parkinson
716210	KAL1	Kallmann Syndrome, KAL1 Gene Analysis
714490	-	Kearns Sayre Syndrome, mtDNA Analysis
711350	-	Known Mutation Analysis
711360	BRAF	Known Mutation Analysis, Prenatal
713010	GALC	Krabbe Disease Gene Analysis
712090	KRAS	KRAS Selected Exon Analysis
716550	-	Kutis Laxa, Exome Analysis
715480	L2HGDH	L - 2 - Hydroxyglutaric Aciduria, L2HGDH Gene Analysis
713020	EPM2A	Lafora Disease (Epilepsy, Progressive Myoclonus Type 2a)
716560	TGM1	Lamellar Ichthyosis, TGM1 Gene Analysis
713900	LAMB2	Laminin β2 gene mutation (LAMB2) Isolated NS, Pierson
713910	LAMB3	Laminin β3 gene mutation (LAMB3)
712100	mtDNA	Leber's Hereditary Optic Neuropathy
713140	SURF1	Leigh Syndrome Gene Analysis
712110	LEP	Leptin Gene Analysis
716250	LEPR	Leptin Receptor Deficiency, LEPR Gene Analysis
714320	HPRT1	Lesch Nyhan Syndrome, HPRT1 Gene Analysis
716260	LHCGR	Leydig Cell Hyperplasia, LHCGR Gene Analysis
714510	LHON	LHON, mtDNA Analysis
715930	SLCC1B	Liddle Syndrome, SLCC1B Gene Analysis
713920	LMXB1	Lim Homeobox Transcription Factor 1b (LMXB1) Mutation (Nail-patella syndrome)
714540	CAV3	Limb Girdle Muscular Dystrophy Type 1C CAV3 Gene Analysis
713030	CAPN3	Limb Girdle Muscular Dystrophy Type 2
713040	DYSF	Limb Girdle Muscular Dystrophy type 2B
714530	LMNA	Limb Grade Muscular Dystrophy Type 1B, LMNA Gene Analysis
715810	ACADL	Long Chain Acyl CoA Dehydrogenase Deficiency, ACADL Gene Analysis
713540	OCRL1	Lowe Syndrome Gene Analysis
713470	EGFR, ALK, BRAF, KRAS, TP53, HER2, ROS1, RET, MET, PIK3CA	Lung Cancer Liquid Biopsy Panel (NSCLC)
713480	EGFR, KRAS, ALK, HER2, BRAF, MET, RET, PIK3CA, FGFR4, HER4	Lung Cancer Panel: (Paraffin Block)
715490	SLC7A7	Lysinuric Protein Intolerance, SLC7A7 Gene Analysis
716570	SLURP1	Mal de Meleda Disease, SLURP1 Gene Analysis
713510	"BRAF (V600E), CDKN2A, NRAS (kodon 12, 13, 61), CDK4	Malignant Melanoma Cancer Panel
715500	MLYCD	Malonyl CoA decarboxylase deficiency, MLYCD Gene Analysis
714950	BCKDHA,BCKDHB,DBT	Maple Syrup Urine Disease, BCKDHA, BCKDHB, DBT Gene Analyses
712120	FBN1	Marfan Syndrome Gene Analysis
714200	SIL1	Marinesco Sjögren Syndrome SIL1 Gene Analysis
713210	ARSB	Maroteaux-Lamy / Mucopolysaccharidosis Type VI Gene Analysis
713780	GNAS	Mccune Albright Syndrome
713060	MKS1	Meckel-Gruber syndrome selected exon Analysis (16,17)
715630	ACADM	Medium-Chain Acyl CoA Dehydrogenase Deficiency, ACADM Gene Analysis
714280	SERAC1	MEGDEL Syndrome (3-Methylglutaconic Aciduria, Deafness, Encephalomyopathy, Leigh-Like Disease), SERAC1 Gene Analysis
712130	mtDNA	MELAS Gene Analysis
715510	ATP7A	Menkes Disease, ATP7A Gene Analysis
714500	MERRF	MERRF, mtDNA Analysis
713290	WES	Metabolic Diseases Panel
712140	ARSA	Metachromatic Leukodystrophy Gene Analysis
713050	MC2R	Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days Sample Name Tube Quantity Transport BloodEDTA Purple cap tube 2-5 ml 18-24 °C
715520	MVK	Mevalonic Aciduria, MVK Gene Analysis
712150	MGMT	MGMT Gene Analysis
712160	-	Microarray, Abort Material
712180	-	Microarray, amniotic fluid, Prenatal
712190	-	Microarray, CVS, Prenatal
712170	-	Microarray, Peripheral Blood
712200	-	Microsatellite Instability Analysis
712210	mtDNA	Mitochondrial Genome Analysis
712220	HNF4A, GCK, HNF1A, HNF1B, HNF4A	MODY Panel
712230	HNF4A	MODY Type 1 HNF4A Gene Analysis
712240	GCK	MODY Type 2 GCK Gene Analysis
712250	HNF1A	MODY Type 3 HNF1A Gene Analysis
712260	HNF1B	MODY Type 5 HNF1B Gene Analysis
715530	MOCS1	Molybdenum Cofactor Deficiency Type A, MOCS1 Gene Analysis
716580	KRT81, KRT83, KRT86	Monilethrix, KRT81, KRT83, KRT86 Gene Analysis
712270	MTHFR	MTHFR C677T and A1298C Polymorphisms
712280	MTHFR	MTHFR Gene A1298C Polymorphism Analysis
712290	MTHFR	MTHFR Gene C677T Polymorphism Analysis
713610	NLRP3 (CIAS1)	Muckle Wells Syndrome
715540	NEU1	Mucolipidosis Type 1 (Sialidosis Type 1 and Type 2) (Neuraminidase Deficiency), NEU1 Gene Analysis
715550	WES	Mucopolysaccharidose Panel (WES Analysis)
716280	WNT4	Mullerian Aplasia and Hyperandrogenism, WNT4 Gene Analysis
714560	RYR1, SEPN1	Multi-Minicom myopathy, RyR1, SEPN1 (WES Analysis)
713770	ETFB	Multiple Acyl Coa Dehydrogenase Deficiency
715560	BTD	Multiple Carboxylase Inactivation, BTD Gene Analysis
712300	MEN1	Multiple Endocrine Neoplasia Type 1 Gene Analysis
712310	RET	Multiple Endocrine Neoplasia Type 2A Gene Analysis
715570	SUMF1	Multiple Sulfatase Deficiency, SUMF1 Gene Analysis
712330	MPL	Myeloproliferative the Leukaemia Protein MPL Gene Target Mutation Analysis
712340	DMPK	Myotonic Dystrophy Type 1 CTG Triple Repeat Analysis
715580	NAGS	N - Acetyl Glutamate Sentase Deficiency, NAGS Gene Analysis
716590	LMX1B	Nail Patella Syndrome, LMX1B Gene Analysis
713070	mt-ATP6	NARP Syndrome (Neuropathy, Ataxia, Retinitis Pigmentosa)
715600	LCAT	Naturopathy, LCAT Gene Analysis
714550	NEB, ACTA1	Nemaline Myopathy, NEB, ACTA1 (WES Analysis)
715590	SLC25A13	Neonatal Intrahepatic Cholestasis, Citrulinaemia Type 2 (Citrin Deficiency), SLC25A13 Gene Analysis
713860	NPHS1	Nephrin (NPHS 1) gene mutations NPHS 1, Fin Type NS, Isolated NS
714020	AVPR2/AQP2	Nephrogenic Diabetes Insipidus AVPR2 / AQP2 Gene Analysis
713730	CTNS	Nephropathic Cystinosis
713460	NPHP1	Nephrophytisis 1 Gene Analysis
714330	FTL	Neuroferritinopathy (Hyperserotonaemia-Cataract Syndrome), FTL Gene Analysis
712420	NF1	Neurofibromatosis Type 1 Deletion Duplication Analysis
712410	NF1	Neurofibromatosis Type 1 Gene Analysis
712430	NF2	Neurofibromatosis Type 2 Gene Analysis
713230	SMPD1	Niemann-Pick Disease, Type A Gene Analysis
713240	NPC1	Niemann-Pick Disease, Type B Gene Analysis
713250	NPC2	Niemann-Pick Disease, Type C Gene Analysis
713800	GLDC	NON-CETOTIC HYPERGLYCINEMIA, Glycine Encephalopathy
712380	Kromozom 13, 18, 21, X, Y	Non-invasive Prenatal Screening Test (NIPT), Trisomy 13-18-21, X, Y Screening from Maternal Blood
712390	Kromozom 13, 18, 21, X, Y, mikrodelesyon sendromları	Non-invasive Prenatal Screening Test Plus (NIPT- Plus), Trisomy 13-18-21, X, Y and Microdeletion Syndromes Screening from Maternal Blood
714310	GCSH	Non-Ketotic Hypoglycaemia, GCSH Gene Analysis
711820	GJB6	Non-Syndromeous Neurosensory Hearing Loss
712400	PTPN11	Noonan Syndrome Gene Analysis
712440	NRAS	NRAS Selected Exon Analysis
712450	NPM1	Nucleophosmin (NPM1) Gene Target Mutation Analysis
713620	MC4R	Obesity-Mc4r Gene Analysis
716610	GPR143	Ocular Albinism Type 1, GPR143 Gene Analysis
711930	HMX1	Oculo Auricular Syndrome
712540	PABPN1	Oculopharyngeal Muscular Dystrophy Gene Analysis
715610	OAT	Ornithine Aminotransferase Deficiency, OAT Gene Analysis
715620	OTC	Ornithine Transcarbamylase Deficiency - OTC Deficiency, OTC Gene Analysis
712480	FKBP10	Osteogenesis Imperfecta Type 11, Gene Analysis
712490	COL1A1	Osteogenesis Imperfective Gene Analysis
712500	CLCN7	Osteopetrosis (Autosomal Dominant) Gene Analysis
712510	TCIRG1	Osteopetrosis (Autosomal Recessive) Gene Analysis
713400	IKBKG	Osteopetrosis X-Linked Gene Analysis
712520	COL1A1	Osteoporosis Polymorphism Analysis
712600	TP53	P53 Gene Analysis
712550	PAI-1	PAI-1 Gene Polymorphism Analysis
716620	CTSC	Palmoplantar Keratosis, CTSC Gene Analysis
713830	ALX4	Parietal Foramina Type 2
713590	PIGA	Paroxysmal Nocturnal Haemoglobinuria 1
713550	PAX6	PAX6 Gene Analysis
711700	PAH	Phenylketonuria
715130	PAH	Phenylketonuria, PAH Gene Analysis
715160	PHGDH	Phosphoglycerate Dehydrogenase Deficiency, PHGDH Gene Analysis
713880	NPHS3	Phospholipase C epsilon 1 (PLCE-1) mutation NPHS 3, Isolated NS
713080	SOX9	Pierre Robin Syndrome Gene Analysis
716310	PDE8B	Pigmented Nodular Adrenocortical Disease, PDE8B Gene Analysis
713870	NPHS2	Podocin (NPHS 2) gene mutations NPHS 2, Isolated NS
714160	PKD2	Polycystic Kidney Disease Autosomal Dominant PKD2 Gene Analysis
713090	PKHD1	Polycystic Kidney Disease Autosomal Recessive Gene Analysis
714170	PKHD1	Polycystic Kidney Disease Autosomal Recessive PKHD1 Gene Analysis
713220	GAA	Pompe's disease / Glycogen storage disease Type II Gene Analysis
712580	SNRPN	Prader-Willi - Angelman Syndrome Methylation Pattern Analysis
711570	TOR1A	Primer Dystonia (Early onset)
712590	AGXT	Primer Hyperoxaluria Type 1 Gene Analysis
716320	PDE11	Primer Macronodular Adrenal Hyperplasia, PDE11A Gene Analysis
716330	FOXL2	Primer Ovarian Failure, FOXL2 Gene Analysis
716340	PRKAR1A	Primer Pigmented Nodular Adrenocortical Disease (Carney Complex), PRKAR1A Gene Analysis
711530	DNAAF2	Primer Sillier Dyskinesia
715670	SLC22A5	Primer Systemic Carnitine Deficiency, SLC22A5 Gene Analysis
713100	PRNP	Prion Disease Gene Analysis
716630	GJB3, GJB4	Progressive Erythrokeratoderma Variabilis, GJB3, GJB4 Gene Analysis
714480	-	Progressive External Ophthalmoplegia, mtDNA Analysis
713750	ATP8B1	Progressive familial intrahepatic cholestasis type 1
713760	ABCB11	Progressive familial intrahepatic cholestasis type 2
714210	ACVR1	Progressive Fibrodysplasia Ossificans ACVR1 Gene analysis
716350	POMC	Proopiomelanocortin deficiency, POMC Gene Analysis
714290	PCCA, PCCB	Propionic Acidaemia, PCCA, PCCB Gene Analysis
713520	BRCA2, ATM, CHEK2, BRCA1, RAD51D, PALB2, ATR, NBN, PMS2, GEN1, MSH2, MSH6, PTEN, P53, HOXB13, MLH1	Prostate Cancer Panel
713370	CYP27B1	Pseudo Rickets Vitamin D Deficiency Linked to Gene Analysis
716640	ABCC6	Pseudoxanthoma Elasticum, ABCC6 Gene Analysis
715640	GSS	Pyroglutamic Aciduria (Glutathione Synthetase Deficiency), GSS Gene Analysis
715660	PC	Pyruvate carboxylase deficiency, PC Gene Analysis
715650	PDHA1	Pyruvate Decarboxylase Deficiency, Pyruvate Dehydrogenase E1 - Alpha Deficiency, PDHA1 Gene Analysis
715680	QDPR	QDPR Deficiency, QDPR Gene Analysis
711920	Kromozom 13, 18, 21, X,Y	Rapid Aneuploidy Analysis, Prenatal
714240	KRAS-NRAS	RAS Panel
712610	MCP2	Rett Syndrome Gene Analysis
715690	PEX7	Rhizomelic Chondrodysplasia Punktata Type 1, PEX7 Gene Analysis
713110	IC1	Russel Silver Methylation / UPD Analysis
714050	TRPM6	Secondary Hypocalcaemia with Familial Hypomagnesemia TRPM6 Gene Analysis
715440	ACADS	Short Chain Acyl CoA Dehydrogenase Deficiency, ACADS Gene Analysis
713120	SHOX	SHOX Gene Analysis
712460	HBB	Sickle Cell Anaemia Target Mutation Analysis, Postnatal
712470	HBB	Sickle Cell Anaemia Target Mutation Analysis, Prenatal
714230	ALDH3A2	Sjögren-Larsson Syndrome ALDH3A2 Gene Analysis
712620	DHCR7	Smith Lemli Opitz Syndrome Gene Analysis
712630	BRCA1	Somatic BRCA1 Gene Analysis
712640	BRCA2	Somatic BRCA2 Gene Analysis
715740	SORD	Sorbitol Dehydrogenase Deficiency, SORD Gene Analysis
715940	SOX2	SOX2 Anophthalmia Syndrome, SOX2 Gene Analysis
712650	SMN1, SMN2	Spinal Muscular Atrophy (SMA) Carrier Analysis
712660	SMN1	Spinal Muscular Atrophy (SMA) Gene Analysis
712670	ATXN1	Spinocerebellar Ataxia (SCA) Type 1 Triple Repeat Analysis
712680	ATXN2	Spinocerebellar Ataxia (SCA) Type 2 Triple Repeat Analysis
712690	ATXN3	Spinocerebellar Ataxia (SCA) Type 3 Triple Repeat Analysis
712700	CACNA1A	Spinocerebellar Ataxia (SCA) Type 6 Triple Repeat Analysis
712710	ATXN7	Spinocerebellar Ataxia (SCA) Type 7 Triple Repeat Analysis
713130	SRY	SRY Gene Analysis
714300	ALDH5A1	Succinitis Semialdehyde Dehydrogenase Deficiency, ALDH5A1 Gene Analysis
715750	SCOT	Succinyl CoA: 3 - Oxoacid CoA Transferase Deficiency, SCOT Gene Analysis
715760	SUOX	Sulphide Oxidase Deficiency, SUOX Gene Analysis
715950	NR5A1	Swyer Syndrome, NR5A1 Gene Analysis
713150	IRF5, STAT4	Systemic Scleroderma Gene Analysis
714220	IRF5, STAT4	Systemic Scleroderma IRF5, STAT4 Gene Analysis
712780	E2A-PBX	t(1;19) E2A-PBX Fusion transcript
712790	TEL/AML1	t(12;21) TEL/AML1 Fusion transcript
712800	PML/RARA	t(15;17) PML/RARA Fusion transcript
712810	MLL-AF4	t(4;11)(q21;q23) MLL-AF4 Fusion transcript
712820	AML1/ETO	t(8;21) AML1/ETO Fusion transcript
	BCR/ABL1	t(9;22) BCR/ABL1 p190 Fusion transcript
712830	BCR/ABL1	t(9;22) BCR/ABL1 p210 Fusion transcript
713270	HEXA	Tay Sachs Disease Gene Analysis
712730	FII, FV, MTHFR, PAI-1	Thrombophilia Panel
714090	ADAMTS13	Thrombotic Thrombolytic Purpura ADAMTS13 Gene Analysis
713840	THRB	Thyroid Hormone Resistance
712720	SERPINA7	Thyroxine Binding Globulin Deficiency, TBG Gene Analysis
715770	SLC19A3	Tiamin Dysfunction Type 2, SLC19A3 Gene Analysis
712740	TPMT	TPMT GENOTYPE ANALYSIS (Thiopurine S Methyl Transferase Deficiency)
715790	TALDO1	Transaldolase deficiency, TALDO1 Gene Analysis
713420	TNFRSF13B	Transient Immunodeficiency Gene Analysis
711130	TTR	Transthyretin Amyloidosis (TTR)
714820	TCOF1	Treacher Collins Syndrome, TCOF1 Gene Analysis
715800	FMO3	Trimethylaminuria, FMO3 Gene Analysis
712770	TSHR	TSHR (Thyroid Stimulating Hormone Receptor) Gene Analysis
712760	TSC2	Tuberous Sclerosis 2 Gene Analysis
712750	TSC1	Tuberous sclerosis gene analysis Type 1
714180	TSC1/TSC2	Tuberous sclerosis TSC1 / TSC2 Gene Analysis
716360	IRS1	Type 2 Diabetes Mellitus, Insulin Resistance, IRS1 Gene Analysis
716370	INSR	Type A Insulin Resistance Syndrome, Rabson-Mendenhall Syndrome, INSR Gene Analysis
715780	FAH	Tyrosine 1 (Hepatorenal Tyrosinemia - Fumaryl Acetoacetase Incomplete), FAH Gene Analysis
714250	CSTB	Unverricht-Lundborg Disease, CSTB Gene Analysis
715820	OTC	Valproate Sensitivity, OTC Gene Analysis
713360	CYP27B1, CYP2R1, VDR	Vitamin D Dependent Rickets Gene Analysis
716650	GJB2	Vohwinkel Syndrome, GJB2 Gene Analysis
715830	G6PC	Von Gierke Disease, G6PC Gene Analysis
712850	VHL	Von Hippel Lindau Gene Analysis
712860	VWF	Von Willebrand Disease Gene Analysis
712870	CYP2C9	Warfarin Resistance CYP2C9 Genetic Polymorphism Analysis
712880	VKORC1	Warfarin Resistance VKORC1 Polymorphism Analysis
713890	WT1	Wilms Tumour suppressor (WT1) mutation Isolated NS, Denys-Drash syndrome
712890	ATP7B	Wilson disease gene analysis
712900	WAS	Wiskott-Aldrich Syndrome Gene Analysis
715960	MSX1	Wolf-Hirschhorn Syndrome, MSX1 Gene Analysis
715980	WFS1	Wolfram Syndrome Type 1, WFS1 Gene Analysis
712910	ABCD1	X-linked Adrenoleukodystrophy (ALD)
713320	NROB	X-linked Congenital Adrenal Hypoplasia Gene Analysis
713350	PHEX	X-linked Hypophosphatemic Rickets Gene Analysis
713600	XIAP	X-linked Lymphoproliferative Syndrome Whole Gene Analysis
716380	SOX3	X-linked Panhipopituitarism, SOX3 Gene Analysis
713160	XPC, ERCC2, POLH	Xeroderma pigmentosa
715970	ERCC5	Xeroderma Pigmentosa, ERCC5 Gene Analysis
712920	AZF	Y chromosome microdeletion analysis
715840	HSD17B4	Zellweger Syndrome, Peroxisome Biosynthesis Disorder, HSD17B4 Gene Analysis

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