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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