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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