PCR – Duzen Laboratories Group Genetic Diseases Evaluation Center

Genetic TestsFragile X Syndrome (PCR)

Test Name & Code: • Test Name: Fragile X Syndrome (PCR) • Test Code: 4803 Related Diseases & Genes: • Fragile X syndrome (OMIM #: 300624) || Gene: FMR1 (OMIM #: 309550) • Fragile X tremor/ataxia syndrome (OMIM #: 300623) • Premature ovarian failure 1 (OMIM #: 311360) Synonyms: • FRAGILE X MENTAL RETARDATION PROTEIN;...

Genetic TestsB-Cell Clonality Test

Test Name & Code: • Test Name: B-Cell Clonality Test • Test Code: 3921 Related Diseases & Genes: • “LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL” (OMIM #: 151400) • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) • “LYMPHOMA, HODGKIN” (OMIM #: 236000) Synonyms: -none- Test Details: • Methodology: PCR; Fragment...

Genetic TestsT-Cell Clonality Test

Test Name & Code: • Test Name: T-Cell Clonality Test • Test Code: 3920 Related Diseases & Genes: • “LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL” (OMIM #: 151400) • “LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL” (OMIM #: 613065) • “Non-Hodgkin lymphoma, somatic” (OMIM #: 605027) • “LYMPHOMA, HODGKIN” (OMIM #: 236000) Synonyms: -none- Test Details: • Methodology: PCR; Fragment...

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 TestsSilver-Russell mat UPD7

Test Name & Code: • Test Name: Silver-Russell mat UPD7 • Test Code: 3627 Related Diseases & Genes: • Silver-Russell syndrome (OMIM #: 180860) Synonyms: • RUSSELL-SILVER SYNDROME • SILVER-RUSSELL DWARFISM Test Details: • Methodology: PCR; DNA Modification • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA •...

Genetic TestsDMD/BMD Deletion Analysis

Test Name & Code: • Test Name: DMD/BMD Deletion Analysis • Test Code: 3096 Related Diseases & Genes: • MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM #: 310200) • MUSCULAR DYSTROPHY, BECKER TYPE (OMIM #: 300376) Synonyms: • Duchenne muscular dystrophy (DMD) Deletion Analysis • Becker muscular dystrophy (BMD) Deletion Analysis • Muscular Dystrophy Duchenne (DMD) DeletionAnalysis • Muscular Dystrophy Becker (BMD) DeletionAnalysis...

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 TestsNIJMEGEN SYNDROME

Test Name & Code: • Test Name: NIJMEGEN SYNDROME • Test Code: 2425 Related Diseases & Genes: • Nijmegen breakage syndrome (OMIM #: 251260) || Gene: NBS1 (OMIM #: 602667) Synonyms: • “NIJMEGEN BREAKAGE SYNDROME, NBS” • 657del5 Mutation • SEEMANOVA SYNDROME II • “NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE” • “IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY” • ATAXIA-TELANGIECTASIA...

Genetic TestsHuntington Disease Mutation Analysis

Test Name & Code: • Test Name: Huntington Disease Mutation Analysis • Test Code: 2423 Related Diseases & Genes: • Huntington disease (OMIM #: 143100) || Gene: HTT (OMIM #: 613004) Synonyms: • HUNTINGTIN; HTT • HD Gene Mutation Analysis • HTT Gene Mutation Analysis • IT15 Gene Mutation Analysis • CAG Increase Test Details: •...

Genetic TestsFriedreich Ataxia Mutation Analyis

Test Name & Code: • Test Name: Friedreich Ataxia Mutation Analyis • Test Code: 2419 Related Diseases & Genes: • Friedreich ataxia with retained reflexes (OMIM #: 229300) || Gene: FXN (OMIM #: 606829) • Friedreich ataxia (OMIM #: 229300) Synonyms: • FRIEDREICH ATAXIA 1 • FRDA1 • FXN Gene Mutation Analysis • Frataxin Mutation • FA...

Genetic TestsMicrosatellite Instability

Test Name & Code: • Test Name: Microsatellite Instability • Test Code: 2242 Related Diseases & Genes: • Colorectal cancer, hereditary nonpolyposis, type 1 (OMIM #: 120435) • Lynch Syndrome I (OMIM #: 120435) Synonyms: • MSI Test Details: • Methodology: PCR • Performed: Everyday • Reported: 2-3 weeks Specimen Details: • Specimen Collection: Tumour...

Genetic TestsFamilial Adenomatous Polyposis

Test Name & Code: • Test Name: Familial Adenomatous Polyposis • Test Code: 2179 Related Diseases & Genes: • Adenomatous polyposis coli (OMIM #: 175100) || Gene: APC (OMIM #: 611731) Synonyms: • Gardner Syndrome • FAP • AFAP • APC Mutations Test Details: • Methodology: PCR; DNA Sequencing • Performed: Everyday • Reported: 3...

Genetic TestsMDR1 Mutation

Test Name & Code: • Test Name: MDR1 Mutation • Test Code: 1992 Related Diseases & Genes: • Multidrug resistance || Gene: ABCB1 (OMIM #: 171050) Synonyms: • MULTIDRUG RESISTANCE GENE (MDR1) • Multi Drug Resistance Test Details: • Methodology: PCR • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection: Peripheral blood...