RT-PCR – Duzen Laboratories Group Genetic Diseases Evaluation Center

Genetic TestsAR-V7 Genetic Test

Test Name & Code: • Test Name: AR-V7 Genetic Test • Test Code: 5547 Related Diseases & Genes: • “Prostate cancer, susceptibility to” (OMIM #: 176807) Synonyms: -none- Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Fresh tissue; Paraffin tissue; Peripheral blood; Bone marrow aspiration material...

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 TestsALK Gene Mutations

Test Name & Code: • Test Name: ALK Gene Mutations • Test Code: 4481 Related Diseases & Genes: • Anaplastic lymphoma (OMIM #: ) || Gene: ALK (OMIM #: 105590) • “Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in” (OMIM #: 211980) Synonyms: • ALK/EML4 Fusion Gene Test Details: • Methodology: RT-PCR •...

Genetic TestsFIP1L1/PDGFRA Fusion, del 4q12 (RT-PCR)

Test Name & Code: • Test Name: FIP1L1/PDGFRA Fusion, del 4q12 (RT-PCR) • Test Code: 3912 Related Diseases & Genes: • “HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES” (OMIM #: 607685) || Gene: FIP1L1 (OMIM #: 607686) || Gene: PDGFRA (OMIM #: 173490) Synonyms: • PDGFRA/FIP1L1 FUSION • 4q Rearrangement • PDGFRA Test Details: • Methodology: RT-PCR •...

Genetic TestsEWS-FLI1 t(11;22) (PNET) RT-PCR

Test Name & Code: • Test Name: EWS-FLI1 t(11;22) (PNET) RT-PCR • Test Code: 3911 Related Diseases & Genes: • Ewing sarcoma (OMIM #: 612219) || Gene: EWSR1 (OMIM #: 133450) • Neuroepithelioma (OMIM #: 612219) Synonyms: • EWS/FLI1 Fusion Gene Test Details: • Methodology: RT-PCR • Performed: Thursdays • Reported: 1 week Specimen Details:...

Genetic TestsHER2 Mutations

Test Name & Code: • Test Name: HER2 Mutations • Test Code: 3799 Related Diseases & Genes: • “Breast cancer, somatic” || Gene: ERBB2 (OMIM #: 164870) • “Nonsmall cell lung cancer, somatic” Synonyms: -none- Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Fresh Tissue; Paraffin...

Genetic TestsLHON Gene Analysis

Test Name & Code: • Test Name: LHON Gene Analysis • Test Code: 3608 Related Diseases & Genes: • LEBER HEREDITARY OPTIC NEUROPATHY; LHON (OMIM #: 535000) Synonyms: -none- Test Details: • Methodology: RT-PCR • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: 5-10 ml...

Genetic TestsTranslocation (15;17)(q22;q21) (PCR)

Test Name & Code: • Test Name: Translocation (15;17)(q22;q21) (PCR) • Test Code: 3130 Related Diseases & Genes: • “Leukemia, acute myelogenous” (OMIM #: 601626) || Gene: PML (OMIM #: 102578) || Gene: RARA (OMIM #: 180240) Synonyms: • t(15;17)(q22;q21) • PML/RARA fusion Test Details: • Methodology: RT-PCR • Performed: Thursdays • Reported: 1 week...

Genetic TestsTranslocation (8;21)(q22; q22) (PCR)

Test Name & Code: • Test Name: Translocation (8;21)(q22; q22) (PCR) • Test Code: 3129 Related Diseases & Genes: • “Leukemia, acute myelogenous” (OMIM #: 601626) || Gene: RUNX1 (OMIM #: 151385) || Gene: RUNX1T1 (OMIM #: 133435) Synonyms: • t(8;21)(q22;q22) • ETO/AML1 Fusion Test Details: • Methodology: RT-PCR • Performed: Thursdays • Reported: 1...

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 TestsPediatric ALL Panel

Test Name & Code: • Test Name: Pediatric ALL Panel • Test Code: 3086 Related Diseases & Genes: • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) Synonyms: • Child Acute Lymphocytic Leukemia Panel Test Details: • Methodology: RT-PCR; FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow...

Genetic TestsALL Panel

Test Name & Code: • Test Name: ALL Panel • Test Code: 3068 Related Diseases & Genes: • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) Synonyms: • Acute Lymphocytic Leukemia Panel Test Details: • Methodology: RT-PCR; FISH • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood; Bone marrow aspiration material;...

Genetic TestsTranslocation (9;22)(q34;q11.2) (PCR)

Test Name & Code: • Test Name: Translocation (9;22)(q34;q11.2) (PCR) • Test Code: 3044 Related Diseases & Genes: • LEUKEMIA, CHRONIC MYELOID; CML (OMIM #: 608232) || Gene: ABL1 (OMIM #: 189980) • LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL (OMIM #: 613065) || Gene: BCR (OMIM #: 151410) • Leukemia, acute myelogenous (OMIM #: 601626) Synonyms: •...

Genetic TestsFluorouracil Toxicity

Test Name & Code: • Test Name: Fluorouracil Toxicity • Test Code: 2307 Related Diseases & Genes: • 5-fluorouracil toxicity (OMIM #: 274270) || Gene: DPYD (OMIM #: 612779) • Dihydropyrimidine dehydrogenase deficiency (OMIM #: 274270) Synonyms: • DPD DEFICIENCY • DPYD DEFICIENCY • DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY • 5-Fluorouracil Activity • DPD*2A Test Details: • Methodology:...

Genetic TestsHLA-B51

Test Name & Code: • Test Name: HLA-B51 • Test Code: 2191 Related Diseases & Genes: • Behcet Syndrome (OMIM #: 109650) || Gene: HLA-B (OMIM #: 142830) Synonyms: • Behcet Disease, Susceptibility to Test Details: • Methodology: RT-PCR • Performed: Everyday • Reported: 7-10 days Specimen Details: • Specimen Collection: Peripheral blood • Container:...

Genetic TestsTranslocation (12;21)(p12;q22) (PCR)

Test Name & Code: • Test Name: Translocation (12;21)(p12;q22) (PCR) • Test Code: 1995 Related Diseases & Genes: • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) || Gene: ETV6 (OMIM #: 600618) || Gene: RUNX1 (OMIM #: 151385) Synonyms: • t(12;21)(p12;q22) • TEL/AML1 fusion Test Details: • Methodology: RT-PCR • Performed: Thursdays • Reported: 1...