Ectodermal Dysplasia and Immunodeficiency 2

TEST CODE MG07450
TEST NAME Ectodermal Dysplasia and Immunodeficiency 2
RELATED GENE NFKBIA
SYNONYMOUS NFKBIA
OMIM 612132
HEREDITY Autosomal Recessive
CLINICAL AREA Ectodermal Dysplasia and Immunodeficiency 2 is an autosomal dominantly inherited disease. Mutations in the NFKBIA 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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