Ectodermal Dysplasia Syndactyly Syndrome 1

TEST CODE MG05310
TEST NAME Ectodermal Dysplasia Syndactyly Syndrome 1
RELATED GENE NECTIN4
SYNONYMOUS NECTIN4
OMIM 613573
HEREDITY Autosomal Recessive
CLINICAL AREA Ectodermal Dysplasia Syndactyly Syndrome 1 is an Autosomal Recessively inherited disease. Mutations in the NECTIN4 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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