Propionic Acidemia

TEST CODE MG08020
TEST NAME Propionic Acidemia
RELATED GENE PCCA
SYNONYMOUS PCCA
OMIM 232000
HEREDITY Autosomal Recessive
CLINICAL AREA Propionic Acidemia is an autosomal recessively inherited disease. Mutations in the PCCA 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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