Charcot Marie Tooth Disease Type 4C

TEST CODE MG07880
TEST NAME Charcot Marie Tooth Disease Type 4C
RELATED GENE SH3TC2
SYNONYMOUS SH3TC2
OMIM 601596
HEREDITY Autosomal Recessive
CLINICAL AREA Charcot Marie Tooth Disease Type 4C is an Autosomal Recessively inherited disease. Mutations in the SH3TC2 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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