5-Oxoprolinase Deficiency
| TEST CODE | MG09350 |
| TEST NAME | 5-Oxoprolinase Deficiency |
| RELATED GENE | OPLAH |
| SYNONYMOUS | OPLAH |
| OMIM | 614243 |
| HEREDITY | Autosomal Dominant/Autosomal Recessive |
| CLINICAL AREA | 5-Oxoprolinase Deficiency is an autosomal recessive disease. Mutations in the OPLAH 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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