Limb - Girdle Muscular Dystrophy Type 2B
TEST CODE | MG01750 |
TEST NAME | Limb – Girdle Muscular Dystrophy Type 2B |
RELATED GENE | DYSF |
SYNONYMOUS | DYSF |
OMIM | 253601 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Limb – Girdle Muscular Dystrophy Type 2B (LGMDR2) is an Autosomal Recessively inherited disease. Mutations in the DYSF 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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