Ellis-van Creveld Syndrome
| TEST CODE | MG05320 |
| TEST NAME | Ellis-van Creveld Syndrome |
| RELATED GENE | EVC |
| SYNONYMOUS | EVC |
| OMIM | 225500 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Ellis – van Creveld Syndrome is an Autosomal Recessively inherited disease. Mutations in the EVC 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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