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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