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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