Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
| TEST CODE | MG10590 |
| TEST NAME | Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
| RELATED GENE | PIGA |
| SYNONYMOUS | PIGA |
| OMIM | 300868 |
| HEREDITY | X-linked Recessive |
| CLINICAL AREA | Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome is a 2 X-linked recessive inherited disease. Mutations in the PIGA 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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