Xeroderma Pigmentosum

TEST CODE MG07970
TEST NAME Xeroderma Pigmentosum
RELATED GENE XPC
SYNONYMOUS XPC
OMIM 613208
HEREDITY Autosomal Recessive
CLINICAL AREA Xeroderma Pigmentosum is an Autosomal Recessively inherited disease. Mutations in the XPC 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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