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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