Charcot Marie Tooth

TEST CODE MG08570
TEST NAME Charcot Marie Tooth
RELATED GENE GJB1
SYNONYMOUS GJB1
OMIM 304040
HEREDITY X-linked Dominant
CLINICAL AREA Charcot Marie Tooth is an X-linked Dominant inherited disease. Mutations in the GJB1 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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