Myopathy, Lactic Acidosis and Sideroblastic anemia 1

TEST CODE MG10670
TEST NAME Myopathy, Lactic Acidosis and Sideroblastic anemia 1
RELATED GENE PUS1
SYNONYMOUS PUS1
OMIM 600462
HEREDITY Autosomal Recessive
CLINICAL AREA Myopathy, Lactic Acidosis and Sideroblastic anemia 1 is an autosomal recessively inherited disease. Mutations in the PUS1 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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