Carpenter Syndrome

TEST CODE MG03400
TEST NAME Carpenter Syndrome
RELATED GENE RAB23
SYNONYMOUS RAB23
OMIM 201000
HEREDITY Autosomal Recessive
CLINICAL AREA Carpenter Syndrome is an Autosomal Recessively inherited disease. Mutations in the RAB23 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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