Glycogen storage disease Ib/c
TEST CODE | MG10080 |
TEST NAME | Glycogen storage disease Ib/c |
RELATED GENE | SLC37A4 |
SYNONYMOUS | SLC37A4 |
OMIM | 602671 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Glycogen storage disease Ib/c is an Autosomal Recessively inherited disease. Mutations in the SLC37A4 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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