Hermansky - Pudlak Syndrome
| TEST CODE | MG05010 |
| TEST NAME | Hermansky – Pudlak Syndrome |
| RELATED GENE | HPS1 |
| SYNONYMOUS | HPS1 |
| OMIM | 203300 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Hermansky-Pudlak Syndrome is an autosomal recessively inherited disease. Mutations in the HPS1 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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