Familial Arterial Tortuosity Syndrome

TEST CODE MG09250
TEST NAME Familial Arterial Tortuosity Syndrome
RELATED GENE SLC2A10
SYNONYMOUS SLC2A10
OMIM 606145
HEREDITY Autosomal Recessive
CLINICAL AREA Familial Arterial Tortuosity Syndrome is an autosomal recessively inherited disease. Mutations in the SLC2A10 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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