Progressive Erythrokeratoderma

TEST CODE MG09450
TEST NAME Progressive Erythrokeratoderma
RELATED GENE GJB4
SYNONYMOUS GJB4
OMIM 605425
HEREDITY Autosomal Recessive
CLINICAL AREA Progressive Erythrokeratoderma is an autosomal dominantly inherited disease. Mutations in the GJB4 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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