Pseudoxanthoma elasticum
TEST CODE | MG03790 |
TEST NAME | Pseudoxanthoma elasticum |
RELATED GENE | ABCC6 |
SYNONYMOUS | ABCC6 |
OMIM | 264800 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Pseudoxanthoma elasticum is an autosomal recessively inherited disease. Mutations in the ABCC6 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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