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3 - Methylcrotonyl CoA Carboxylase 1 Deficiency, MCCC1 Gene Analysis
Test Code: 714910 Genetik Tanı Testleri - Gen: MCCC1
Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample NameTubeQuantityTransport
BloodEDTA Purple cap tube 2-5 ml 18-24 °C

3-Hydroxy Acyl COA Dehydrogenase Deficiency, HADH Gene Analysis
Test Code: 714900 Genetik Tanı Testleri - Gen: HADH
Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample NameTubeQuantityTransport
BloodEDTA Purple cap tube 2-5 ml 18-24 °C

5 Alpha Reductase Deficiency Gene Analysis
Test Code: 712930 Genetik Tanı Testleri - Gen: SRD5A2
Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample NameTubeQuantityTransport
BloodEDTA Purple cap tube 2-5 ml 18-24 °C

Abetalipoproteinemia, MTTP Gene Analysis
Test Code: 714450 Genetik Tanı Testleri - Gen: MTTP
Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample NameTubeQuantityTransport
BloodEDTA Purple cap tube 2-5 ml 18-24 °C

Achondroplasia Target Mutation Analysis
Test Code: 711180 Genetik Tanı Testleri - Gen: FGFR3 
Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample NameTubeQuantityTransport
BloodEDTA Purple cap tube 2-5 ml 18-24 °C
Achondroplasia Target Mutation Analysis, Prenatal
Test Code: 711190 Genetik Tanı Testleri - Gen: FGFR3 
Method : Sequence Analysis / Working Days : Everyday / Report Duration : 30 Days
Sample NameTubeQuantityTransport
Amniotic Fluid, CVS material, Cord Blood See Description See Description 18-24 °C
Descriptions
Sample TypeCover / TubeSample 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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 TubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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
BloodEDTA 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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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
BloodEDTA 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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 AdıKapMiktarTaşıma
 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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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
BloodEDTA 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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
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 NameTubeQuantityTransport
BloodEDTA Purple cap tube 2-5 ml 18-24 °C

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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