Pyruvate Dehydrogenase Deficiency

TEST CODE MG02420
TEST NAME Pyruvate Dehydrogenase Deficiency
RELATED GENE PDHA1
SYNONYMOUS PDHA1
OMIM 312170
HEREDITY X-linked Dominant
CLINICAL AREA Pyruvate Dehydrogenase Deficiency is an X-linked dominantly inherited disease. Mutations in the PDHA1 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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