Molybdenum Cofactor Deficiency Type B
TEST CODE | MG08650 |
TEST NAME | Molybdenum Cofactor Deficiency Type B |
RELATED GENE | MOCS2 |
SYNONYMOUS | MOCS2 |
OMIM | 603708 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Molybdenum Cofactor Deficiency Type B is an Autosomal Recessively inherited disease. Mutations in the MOCS2 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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