Predisposition/Risk Factors – Duzen Laboratories Group Genetic Diseases Evaluation Center

Genetic TestsAge-Related Macular Degeneration Genetic Predisposition

Test Name & Code: • Test Name: Age-Related Macular Degeneration Genetic Predisposition • Test Code: 5742 Related Diseases & Genes: • “Macular degeneration, age-related, 4” (OMIM #: 610698) || Gene: CFH (OMIM #: 134370) • “Macular degeneration, age-related, 8” (OMIM #: 613778) || Gene: ARMS2 (OMIM #: 611313) Synonyms: • CFH; Y402H variant • ARMS2;...

Genetic TestsACTN3 Mutation Analysis

Test Name & Code: • Test Name: ACTN3 Mutation Analysis • Test Code: 5210 Related Diseases & Genes: • Alpha-actinin-3 deficiency (OMIM #: Sprinting performance) || Gene: ACTN3 (OMIM #: 102574) Synonyms: • “ACTININ, ALPHA-3” • Alpha Actinin R577X Polymorphism Analysis Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 7-10 days Specimen Details:...

Genetic TestsSELECTIN S128R Polymorphism Analysis

Test Name & Code: • Test Name: SELECTIN S128R Polymorphism Analysis • Test Code: 4835 Related Diseases & Genes: • Blood pressure regulation QTL (OMIM #: 145500) || Gene: SELE (OMIM #: 131210) Synonyms: • E-SELECTIN • ENDOTHELIAL LEUKOCYTE ADHESION MOLECULE 1 • ELAM1 • ELAM Test Details: • Methodology: RT-PCR • Performed: Everyday •...

Genetic TestsFactor V Cambridge Mutation Analysis

Test Name & Code: • Test Name: Factor V Cambridge Mutation Analysis • Test Code: 4834 Related Diseases & Genes: • Factor V deficiency (OMIM #: 227400) || Gene: F5 (OMIM #: 612309) • Thrombophilia due to activated protein C resistance (OMIM #: 188055) Synonyms: • COAGULATION FACTOR V • Factor V R306T Mutation Analysis...

Genetic TestsF13 V34L Polymorphism Analysis

Test Name & Code: • Test Name: F13 V34L Polymorphism Analysis • Test Code: 4833 Related Diseases & Genes: • Factor XIIIA Deficiency (OMIM #: 613225) || Gene: F13A1 (OMIM #: 134570) Synonyms: -none- Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: 10 days Specimen Details: • Specimen Collection: Peripheral blood • Container:...

Genetic TestsWhole Exome Sequencing (WES)

Test Name & Code: • Test Name: Whole Exome Sequencing (WES) • Test Code: 4778 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 9 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: > 5...

Genetic TestsThrombophilia – Cardiovascular Disease Genetic Susceptibility Panel

Test Name & Code: • Test Name: Thrombophilia – Cardiovascular Disease Genetic Susceptibility Panel • Test Code: 4333 Related Diseases & Genes: -not applicable- Synonyms: • Cardiovascular Disease Susceptibility Panel • CVD Susceptibility Panel • Panel with Thrombophilia 13 Test Details: • Methodology: Strip Test • Performed: Everyday • Reported: 1 week Specimen Details: •...

Genetic TestsOsteoporosis Susceptibility Panel

Test Name & Code: • Test Name: Osteoporosis Susceptibility Panel • Test Code: 3721 Related Diseases & Genes: • Osteoporosis (OMIM #: 166710) Synonyms: -none- Test Details: • Methodology: PCR; Reverse Hybridization; Dot Blot • Performed: Everyday • Reported: 2-3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen...

Genetic TestsRheumatoid Arthritis Susceptibility Panel

Test Name & Code: • Test Name: Rheumatoid Arthritis Susceptibility Panel • Test Code: 3720 Related Diseases & Genes: • “Rheumatoid arthritis, susceptibility to” (OMIM #: 180300) Synonyms: -none- Test Details: • Methodology: PCR; Reverse Hybridization; Dot Blot • Performed: Everyday • Reported: 2-3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

Genetic TestsPON1 Polymorphism (163T>A, 575A>G)

Test Name & Code: • Test Name: PON1 Polymorphism (163T>A, 575A>G) • Test Code: 3314 Related Diseases & Genes: • “Coronary artery disease, susceptibility to” (OMIM #: “Coronary artery spasm 2, susceptibility to”) || Gene: PON1 (OMIM #: 168820) Synonyms: • PARAOXONASE 1 • PARAOXONASE 1 Polymorphism • c.163T>A • c.575A>G Test Details: • Methodology:...

Genetic TestsPlasminogen Activator Inhibitor 1 Polymorphism

Test Name & Code: • Test Name: Plasminogen Activator Inhibitor 1 Polymorphism • Test Code: 3119 Related Diseases & Genes: • Plasminogen activator inhibitor-1 deficiency (OMIM #: 613329) || Gene: PAI1 (OMIM #: 173360) Synonyms: • PLASMINOGEN ACTIVATOR INHIBITOR 1 • “SERPIN PEPTIDASE INHIBITOR, CLADE E (NEXIN, PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1), MEMBER 1 (SERPINE1)” • PAI1 Polymorphism Test Details:...

Genetic TestsACE I/D Polymorphism

Test Name & Code: • Test Name: ACE I/D Polymorphism • Test Code: 3110 Related Diseases & Genes: • “Hypertension, essential, salt-sensitive” (OMIM #: 145500) || Gene: ACE (OMIM #: 106180) Synonyms: • ANGIOTENSIN I-CONVERTING ENZYME • ACE1 • DIPEPTIDYL CARBOXYPEPTIDASE 1 (DCP1) Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 1 week...

Genetic TestsMTHFR A1298C Mutation Analysis

Test Name & Code: • Test Name: MTHFR A1298C Mutation Analysis • Test Code: 3108 Related Diseases & Genes: • Homocystinuria due to MTHFR deficiency (OMIM #: 236250) || Gene: MTHFR (OMIM #: 607093) Synonyms: • 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE • METHYLENETETRAHYDROFOLATE A1298C Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: Next day (18:00) Specimen Details: •...

Genetic TestsMTHFR C677T Mutation Analysis

Test Name & Code: • Test Name: MTHFR C677T Mutation Analysis • Test Code: 3106 Related Diseases & Genes: • Homocystinuria due to MTHFR deficiency (OMIM #: 236250) || Gene: MTHFR (OMIM #: 607093) Synonyms: • “5,10-METHYLENETETRAHYDROFOLATE REDUCTASE” • METHYLENETETRAHYDROFOLATE C677T Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: Next day (18:00) Specimen Details: •...

Genetic TestsProthrombin (Factor II) Mutation Analysis

Test Name & Code: • Test Name: Prothrombin (Factor II) Mutation Analysis • Test Code: 3105 Related Diseases & Genes: • Thrombophilia due to thrombin defect (OMIM #: 188050) || Gene: F2 (OMIM #: 176930) Synonyms: • COAGULATION FACTOR II • G20210A • Factor II G20210A Mutation Analysis Test Details: • Methodology: RT-PCR • Performed:...

Genetic TestsFactor V Leiden Mutation

Test Name & Code: • Test Name: Factor V Leiden Mutation • Test Code: 3102 Related Diseases & Genes: • Factor V deficiency (OMIM #: 227400) || Gene: F5 (OMIM #: 612309) • Thrombophilia due to activated protein C resistance (OMIM #: 188055) Synonyms: • COAGULATION FACTOR V • Factor V G1691A Mutation Analysis • ACTIVATED...

Genetic TestsCeliac Genetic Panel

Test Name & Code: • Test Name: Celiac Genetic Panel • Test Code: 2574 Related Diseases & Genes: • Celiac disease, susceptibility to (OMIM #: 212750) || Gene: HLA-DQA1 (OMIM #: 146880) || Gene: HLA-DQB1 (OMIM #: 604305) Synonyms: • HLA DR • DQ Typing • Celiac Disease Susceptibility Evaluation • Coeliac Disease • Celiac...

Genetic TestsAntithrombin III

Test Name & Code: • Test Name: Antithrombin III • Test Code: 2169 Related Diseases & Genes: • Thrombophilia due to antithrombin III deficiency (OMIM #: 613118) || Gene: AT3D (OMIM #: 613118) Synonyms: • ANTITHROMBIN III DEFICIENCY • AT Gene • “Exon 1, 2, 3a, 3b, 4, 5, 6” Test Details: • Methodology: DNA Sequencing •...

Genetic TestsApoE Genotyping

Test Name & Code: • Test Name: ApoE Genotyping • Test Code: 1438 Related Diseases & Genes: • Alzheimer disease-2 (OMIM #: 104310) || Gene: APOE (OMIM #: 107741) • “Hyperlipoproteinemia, type III” • Lipoprotein glomerulopathy (OMIM #: 611771) • Sea-blue histiocyte disease (OMIM #: 269600) Synonyms: -none- Test Details: • Methodology: Reverse Dot Blot...