Charcot Marie Tooth GJB1 MLPA
TEST CODE | MG00740 |
TEST NAME | Charcot Marie Tooth GJB1 MLPA |
RELATED GENE | GJB1 |
SYNONYMOUS | GJB1 |
OMIM | 302800/302800 |
HEREDITY | X-linked Dominant |
CLINICAL AREA | Charcot-Marie-Tooth neuropathy is an X-linked Dominant inherited disease. Mutations in the GJB1 gene have been associated with the disease. |
METHOD | MLPA |
SAMPLE TYPE | Blood with EDTA |
QUANTITY | 3 mL |
TAT | 40 DAYS |
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