Glycogen Storage Disease Type 1
TEST CODE | MG01160 |
TEST NAME | Glycogen Storage Disease Type 1 |
RELATED GENE | G6PC |
SYNONYMOUS | G6PC |
OMIM | 232200 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Glycogen Storage Disease Type 1 (GSD1A) is an Autosomal Recessively inherited disease. Mutations in the G6PC1 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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