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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