Propionic Acidemia

TEST CODE MG08030
TEST NAME Propionic Acidemia
RELATED GENE PCCB
SYNONYMOUS PCCB
OMIM 232050
HEREDITY Autosomal Recessive
CLINICAL AREA Propionic Acidemia is an autosomal recessively inherited disease. Mutations in the PCCB 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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