Molybdenum Cofactor Deficiency Type A
TEST CODE | MG05060 |
TEST NAME | Molybdenum Cofactor Deficiency Type A |
RELATED GENE | MOCS1 |
SYNONYMOUS | MOCS1 |
OMIM | 252150 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Molybdenum Cofactor Deficiency Type A is an Autosomal Recessively inherited disease. Mutations in the MOCS1 gene have been associated with the disease. |
METHOD | Next Generation Sequencing |
SAMPLE TYPE | Blood with EDTA |
QUANTITY | 3 mL |
TAT | 40 DAYS |
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