Glycogen Storage Disease Type 0B
TEST CODE | MG09390 |
TEST NAME | Glycogen Storage Disease Type 0B |
RELATED GENE | GYS1 |
SYNONYMOUS | GYS1 |
OMIM | 138570 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Glycogen Storage Disease Type 0B is an Autosomal Recessively inherited disease. Mutations in the GYS1 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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