Ochoa Syndrome
| TEST CODE | MG06060 |
| TEST NAME | Ochoa Syndrome |
| RELATED GENE | HPSE2 |
| SYNONYMOUS | HPSE2 |
| OMIM | 236730 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Ochoa Syndrome is an Autosomal Recessively inherited disease. Mutations in the HPSE2 gene have been associated with the disease. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 ml |
| TAT | 45 DAYS |
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