PCR-RFLP – Duzen Laboratories Group Genetic Diseases Evaluation Center

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 TestsRET Mutations

Test Name & Code: • Test Name: RET Mutations • Test Code: 3404 Related Diseases & Genes: • Multiple endocrine neoplasia IIA (OMIM #: 171400) || Gene: RET (OMIM #: 164761) • Multiple endocrine neoplasia IIB (OMIM #: 162300) • Medullary thyroid carcinoma (OMIM #: 155240) Synonyms: • Rearranged During Transfection Protooncogene • RET Protooncogene...

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 TestsCongenital Adrenal Hyperplasia (CYP21A2 Gene)

Test Name & Code: • Test Name: Congenital Adrenal Hyperplasia (CYP21A2 Gene) • Test Code: 3267 Related Diseases & Genes: • “Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency” (OMIM #: 201910) || Gene: CYP21A2 (OMIM #: 613815) • “Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency” (OMIM #: 201910) Synonyms: • “Cytochrome P450, Family 21, Subfamily...

Genetic TestsHBB Mutation Analysis

Test Name & Code: • Test Name: HBB Mutation Analysis • Test Code: 3121 Related Diseases & Genes: • Sickle cell anemia (OMIM #: 603903) || Gene: HBB (OMIM #: 141900) Synonyms: • Hemoglobin Beta Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

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 TestsHypochondroplasia Mutation Analysis

Test Name & Code: • Test Name: Hypochondroplasia Mutation Analysis • Test Code: 3109 Related Diseases & Genes: • Hypochondroplasia (OMIM #: 146000) || Gene: FGFR3 (OMIM #: 134934) Synonyms: • FIBROBLAST GROWTH FACTOR RECEPTOR 3 Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic TestsAchondroplasia Mutation Analysis (FGFR3 Gene)

Test Name & Code: • Test Name: Achondroplasia Mutation Analysis (FGFR3 Gene) • Test Code: 3101 Related Diseases & Genes: • Achondroplasia (OMIM #: 100800) || Gene: FGFR3 (OMIM #: 134934) Synonyms: -none- Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 2 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube...

Genetic TestsSMA Mutation Analysis

Test Name & Code: • Test Name: SMA Mutation Analysis • Test Code: 3098 Related Diseases & Genes: • Spinal muscular atrophy-1 (OMIM #: 253300) || Gene: SMN1 (OMIM #: 600354) Synonyms: • Spinal Muscular Atrophy Mutation Analysis • SMN Gene Deletion Analysis • SMA Exon 7 Deletion • SMA Exon 8 Deletion Test Details:...

Genetic TestsThiopurine Pharmacogenetics Test (TPMT Gene)

Test Name & Code: • Test Name: Thiopurine Pharmacogenetics Test (TPMT Gene) • Test Code: 2457 Related Diseases & Genes: • 6-mercaptopurine sensitivity (OMIM #: 610460) || Gene: TPMT (OMIM #: 187680) Synonyms: • THIOPURINE S-METHYLTRANSFERASE • 6-mercaptopurine toxicity • 6-mercaptopurine activity • TMPT Polymorphism • TPMT*2 allele • TPMT *3A allele Test Details: •...

Genetic TestsFLT3 Mutations

Test Name & Code: • Test Name: FLT3 Mutations • Test Code: 2313 Related Diseases & Genes: • Leukemia, acute myeloid (OMIM #: 601626) || Gene: FLT3 (OMIM #: 136351) • Leukemia, acute lymphoblastic (OMIM #: 613065) • Leukemia, acute myeloid, reduced survival in (OMIM #: ) Synonyms: • FMS-RELATED TYROSINE KINASE 3 • STEM...

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 TestsHNPP

Test Name & Code: • Test Name: HNPP • Test Code: 2164 Related Diseases & Genes: • “NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP” (OMIM #: 162500) || Gene: PMP22 (OMIM #: 601097) Synonyms: • PMP22 Deletion • 17p11.2 Deletion Test Details: • Methodology: PCR-RFLP • Performed: Everyday • Reported: 1 week Specimen Details:...