DGUOK Whole Gene Sequence Analysis

TEST CODE MG09990
TEST NAME DGUOK Whole Gene Sequence Analysis
RELATED GENE DGUOK
SYNONYMOUS DGUOK
OMIM 601465
HEREDITY Autosomal Recessive
CLINICAL AREA Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) is an autosomal recessively inherited disease. Mutations in the DGUOK 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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