Limb - Girdle Muscular Dystrophy, Autosomal Type 1E
TEST CODE | MG06370 |
TEST NAME | Limb – Girdle Muscular Dystrophy, Autosomal Type 1E |
RELATED GENE | DNAJB6 |
SYNONYMOUS | DNAJB6 |
OMIM | 603511 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Limb-Girdle Muscular Dystrophy Type 1E is an autosomal dominantly inherited disease. Mutations in the DNAJB6 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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