10' methylenetetrahydrofolate reductase deficiency (MTHFR), HFE-associated hereditary hemochromatosis, Huntington disease (HD), fragile X syndrome, Muenke syndrome, connexin 26-associated deafness, and alpha-thalassemia.CDC GeT-RM ProgramThe Centers for Disease Control and Prevention (CDC) Genetic Testing Reference
Cell Repositories. Diseases include cystic fibrosis (CF), 5' 10' methylenetetrahydrofolate reductase deficiency (MTHFR), HFE-associated hereditary hemochromatosis, Huntington disease (HD), fragile X syndrome, Muenke syndrome, connexin 26-associated deafness, and alpha-thalassemia.These reference cell lines contain
Sequencing Other Methods2 (# labs) GM20730 B-lymphocyte 5,10-@Methylenetetrahydrofolate Reductase MTHFR 677C>T3 1298A>C3 1298A>C 3 1 lab A(1), B(2), C(2), D(1), E(1) GM20835 B-lymphocyte Protease Inhibitor 1 SERPINA1 MS4 1 lab A(1), B(2), E(2), F(1), G(1) GM20918 B
Sequencing Other Methods2 (# labs) GM20730 B-lymphocyte 5,10-@Methylenetetrahydrofolate Reductase MTHFR 677C>T3 1298A>C3 1298A>C 3 1 lab A(1), B(2), C(2), D(1), E(1) GM20835 B-lymphocyte Protease Inhibitor 1 SERPINA1 MS4 1 lab A(1), B(2), E(2), F(1), G(1) GM20918 B
