ARC Syndrome

TEST CODE MG00590
TEST NAME ARC Syndrome
RELATED GENE VPS33B
SYNONYMOUS VPS33B
OMIM 608552/208085
HEREDITY Autosomal Recessive
CLINICAL AREA ARC Syndrome (ARCS1) is an Autosomal Recessively inherited disease. Mutations in the VPS33B 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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