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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