Mitochondrial DNA Depletion Syndrome 2 TK2

TEST CODE MG07170
TEST NAME Mitochondrial DNA Depletion Syndrome 2 TK2
RELATED GENE TK2
SYNONYMOUS TK2
OMIM 609560
HEREDITY Autosomal Recessive
CLINICAL AREA Mitochondrial DNA Depletion Syndrome 2 is an Autosomal Recessively inherited disease. Mutations in the TK2 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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