Hyperprolinemia, Type 1
| TEST CODE | MG07910 |
| TEST NAME | Hyperprolinemia, Type 1 |
| RELATED GENE | PRODH |
| SYNONYMOUS | PRODH |
| OMIM | 239500 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Hyperprolinemia is a type 1 autosomal recessive inherited disease. Mutations in the PRODH 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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