Cohen Syndrome

TEST CODE MG08100
TEST NAME Cohen Syndrome
RELATED GENE VPS13B
SYNONYMOUS VPS13B
OMIM 607817
HEREDITY Autosomal Recessive
CLINICAL AREA Cohen Syndrome is an Autosomal Recessively inherited disease. Mutations in the VPS13B 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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