Pseudoxanthoma elasticum

TEST CODE MG03790
TEST NAME Pseudoxanthoma elasticum
RELATED GENE ABCC6
SYNONYMOUS ABCC6
OMIM 264800
HEREDITY Autosomal Recessive
CLINICAL AREA Pseudoxanthoma elasticum is an autosomal recessively inherited disease. Mutations in the ABCC6 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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