Phenylketonuria Whole Gene
TEST CODE | MG01020 |
TEST NAME | Phenylketonuria Whole Gene |
RELATED GENE | PAH |
SYNONYMOUS | PAH |
OMIM | 612349/261600 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Phenylketonuria (PKU) is an Autosomal Recessively inherited disease. Mutations in the PAH 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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