Strip Test – Duzen Laboratories Group Genetic Diseases Evaluation Center

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 TestsAlpha Thalassemia Mutation Screening

Test Name & Code: • Test Name: Alpha Thalassemia Mutation Screening • Test Code: 3131 Related Diseases & Genes: • Alpha Thalassemias (OMIM #: 604131) || Gene: HBA1 (OMIM #: 141800) Synonyms: • Thalassemia • Mediterranean Anemia Test Details: • Methodology: Strip Test • Performed: Everyday • Reported: 1 week Specimen Details: • Specimen Collection:...

Genetic TestsFamilial Mediterranean Fever Mutation Analysis

Test Name & Code: • Test Name: Familial Mediterranean Fever Mutation Analysis • Test Code: 3122 Related Diseases & Genes: • “Familial Mediterranean fever, AD” (OMIM #: 134610) || Gene: MEFV (OMIM #: 608107) • “Familial Mediterranean fever, AR” (OMIM #: 249100) Synonyms: • FMF Genetic Analysis • MEFV Strip Test Test Details: • Methodology:...

Genetic TestsAlpha-1-Antitrypsin Genotype Determination (M, S, Z Alleles)

Test Name & Code: • Test Name: Alpha-1-Antitrypsin Genotype Determination (M, S, Z Alleles) • Test Code: 3111 Related Diseases & Genes: • Emphysema-cirrhosis, due to AAT deficiency (OMIM #: 613490) || Gene: SERPINA1 (OMIM #: 107400) • Emphysema due to AAT deficiency (OMIM #: 613490) Synonyms: • A1AT Deficiency • AAT Deficiency • “Serpin...

Genetic TestsCystic Fibrosis (CFTR) Whole Gene Sequence Analysis

Test Name & Code: • Test Name: Cystic Fibrosis (CFTR) Whole Gene Sequence Analysis • Test Code: 2676 Related Diseases & Genes: • Cystic fibrosis (OMIM #: 219700) || Gene: CFTR (OMIM #: 602421) Synonyms: • CF Mutations • CF Genetic Analysis • Cystic Fibrosis Transmembrane Conductance Regulator Test Details: • Methodology: Strip Test •...

Genetic TestsCystic Fibrosis CFTR Delta F508 Mutation

Test Name & Code: • Test Name: Cystic Fibrosis CFTR Delta F508 Mutation • Test Code: 2671 Related Diseases & Genes: • Congenital bilateral absence of vas deferens (CBAVD) (OMIM #: 277180) || Gene: CFTR (OMIM #: 602421) • Cystic fibrosis (OMIM #: 219700) • Sweat chloride elevation without CF Synonyms: • “ATP-BINDING CASSETTE, SUBFAMILY...