Central Hypoventilation Syndrome
| TEST CODE | MG06510 |
| TEST NAME | Central Hypoventilation Syndrome |
| RELATED GENE | PHOX2B |
| SYNONYMOUS | PHOX2B |
| OMIM | 209880 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Congenital Central Hypoventilation Syndrome 1 is an autosomal dominantly inherited disease. Mutations in the PHOX2B 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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