Limb - Girdle Muscular Dystrophy, Autosomal Recessive Type 2K
TEST CODE | MG06340 |
TEST NAME | Limb – Girdle Muscular Dystrophy, Autosomal Recessive Type 2K |
RELATED GENE | POMT1 |
SYNONYMOUS | POMT1 |
OMIM | 609308 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Limb – Girdle Muscular Dystrophy Type 2K is an Autosomal Recessively inherited disease. Mutations in the POMT1 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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