Phenylketonuria - MLPA
| TEST CODE | MG03740 |
| TEST NAME | Phenylketonuria – MLPA |
| RELATED GENE | PAH,IGF1,ASCL1 |
| SYNONYMOUS | PAH,IGF1,ASCL1 |
| OMIM | 261600 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Phenylketonuria is an autosomal recessively inherited disease. Mutations in the PAH gene have been associated with the disease. This test screens for deletion/duplication type mutations in the disease-related gene using the MLPA method. |
| METHOD | MLPA |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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