Molecular Genetics Tests Turn Specimen Referral Genetic Tests Around sample Price/JDs Time Amnio PCR for aneuploidy screening of 120 Amniotic fluid 2 – 3 days chromosomes 13, 18, 21, X and Y, QF-PCR Cardio Vascular Disease Risk Factors, 12 Mutations EDTA whole 60 7 days Profile, PCR blood Cystic Fibrosis CFTR Gene Mutations (36 190 Amniotic fluid 17 days mutations), Amniotic fluid Cystic Fibrosis CFTR Gene Mutations (36 EDTA whole 90 7 days mutations), Blood blood Cystic Fibrosis CFTR Gene Mutations (36 Chorionic Villus 190 17 days mutations), CVS Sampling (CVS) Duchenne and Becker Muscular Dystrophy EDTA whole 18 – 20 150 (DMD,BMD), Genetic Analysis blood days Duchenne and Becker Muscular Dystrophy 250 Amniotic fluid 30 days (DMD,BMD), Genetic Analysis Duchenne and Becker Muscular Dystrophy Chorionic Villus 250 30 days (DMD,BMD), Genetic Analysis Sampling (CVS) Factor II G20210A Prothrombin Gene Mutation (for EDTA whole 25 4 days CVD and Recurrent Abortion) blood Factor V G1691A (Leiden) Gene Mutation ( for EDTA whole 25 4 days CVD and Recurrent Abortion) blood EDTA whole 68 Familial Mediterranean Fever (12 mutations) 4 days blood Hereditary Hemochromatosis HFE Gene Mutations EDTA whole 50 4 days (H63D, S65C, C282Y), PCR blood EDTA whole 110 HLA ABC, Blood, PCR 7 days blood EDTA whole 30 HLA B27, Blood, PCR 4 days blood EDTA whole 30 HLA B5, Blood, PCR 4 days blood EDTA whole 50 HLA DR, Blood, PCR 4 days blood Human Oncogenes, Breast Cancer genes (BRCA1, EDTA whole 350 3 weeks BRCA2), Gene Analysis, PCR blood EDTA whole 25 MTHFR C677T (for CVD and Recurrent Abortion) 4 days blood EDTA whole 18 – 20 Spinal Muscular Atrophy (SMA), Genetic Analysis 150 blood days Spinal Muscular Atrophy (SMA), Genetic Analysis Amniotic fluid 30 days 250
Molecular Genetics Tests Genetic Tests Specimen sample Turn Around Time Referral Price/JDs Amnio PCR for aneuploidy screening of chromosomes 13, 18, 21, X and Y, QF-PCR Amniotic fluid 2 – 3 days 120 Cardio Vascular Disease Risk Factors, 12 Mutations Profile, PCR EDTA whole blood 7 days 60 Cystic Fibrosis CFTR Gene Mutations (36 mutations), Amniotic fluid Amniotic fluid 17 days 190 Cystic Fibrosis CFTR Gene Mutations (36 mutations), Blood EDTA whole blood 7 days 90 Cystic Fibrosis CFTR Gene Mutations (36 mutations), CVS Chorionic Villus Sampling (CVS) 17 days 190 Duchenne and Becker Muscular Dystrophy (DMD,BMD), Genetic Analysis EDTA whole blood 18 – 20 days 150 Duchenne and Becker Muscular Dystrophy (DMD,BMD), Genetic Analysis Amniotic fluid 30 days 250 Duchenne and Becker Muscular Dystrophy (DMD,BMD), Genetic Analysis Chorionic Villus Sampling (CVS) 30 days 250 Factor II G20210A Prothrombin Gene Mutation (for CVD and Recurrent Abortion) EDTA whole blood 4 days 25 Factor V G1691A (Leiden) Gene Mutation ( for CVD and Recurrent Abortion) EDTA whole blood 4 days 25 Familial Mediterranean Fever (12 mutations) EDTA whole blood 4 days 68 Hereditary Hemochromatosis HFE Gene Mutations (H63D, S65C, C282Y), PCR EDTA whole blood 4 days 50 HLA ABC, Blood, PCR EDTA whole blood 7 days 110 HLA B27, Blood, PCR EDTA whole blood 4 days 30 HLA B5, Blood, PCR EDTA whole blood 4 days 30 HLA DR, Blood, PCR EDTA whole blood 4 days 50 Human Oncogenes, Breast Cancer genes (BRCA1, BRCA2), Gene Analysis, PCR EDTA whole blood 3 weeks 350 MTHFR C677T (for CVD and Recurrent Abortion) EDTA whole blood 4 days 25 Spinal Muscular Atrophy (SMA), Genetic Analysis EDTA whole blood 18 – 20 days 150 Spinal Muscular Atrophy (SMA), Genetic Analysis Amniotic fluid 30 days 250
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