Escobar Syndrome
| TEST CODE | MG09000 |
| TEST NAME | Escobar Syndrome |
| RELATED GENE | CHRNG |
| SYNONYMOUS | CHRNG |
| OMIM | 265000 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Escobar Syndrome is an autosomal recessive disease. Mutations in the CHRNG 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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