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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