Refsum's Disease
TEST CODE | MG07290 |
TEST NAME | Refsum’s Disease |
RELATED GENE | PHYH |
SYNONYMOUS | PHYH |
OMIM | 266500 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Refsum Disease is an autosomal recessively inherited disease. Mutations in the PHYH 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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