alkaptonuria

TEST CODE MG08060
TEST NAME alkaptonuria
RELATED GENE HGD
SYNONYMOUS HGD
OMIM 607474
HEREDITY Autosomal Recessive
CLINICAL AREA Alkaptonuria is an autosomal recessively inherited disease. Mutations in the HGD 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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