3M SYNDROME TYPE 3

TEST CODE MG08360
TEST NAME 3M SYNDROME TYPE 3
RELATED GENE CCDC8
SYNONYMOUS CCDC8
OMIM 614145
HEREDITY Autosomal Recessive
CLINICAL AREA 3M SYNDROME TYPE 3 is an Autosomal Recessively inherited disease. Mutations in the CCDC8 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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