Smith-McCort Dysplasia Type 2

TEST CODE MG08910
TEST NAME Smith-McCort Dysplasia Type 2
RELATED GENE RAB33B
SYNONYMOUS RAB33B
OMIM 605950
HEREDITY Autosomal Recessive
CLINICAL AREA Smith-McCort Dysplasia Type 2 is an autosomal recessive disease. Mutations in the RAB33B 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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