Limb - Girdle Muscular Dystrophy, Autosomal Recessive Type 2I
TEST CODE | MG04300 |
TEST NAME | Limb – Girdle Muscular Dystrophy, Autosomal Recessive Type 2I |
RELATED GENE | FKRP |
SYNONYMOUS | FKRP |
OMIM | 606596 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Limb – Girdle Muscular Dystrophy Type 2I is an Autosomal Recessively inherited disease. Mutations in the FKRP 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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