Phenylketonuria: PAH deficiency
| Test Information | |
|---|---|
| Test Name | Phenylketonuria: PAH deficiency |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Amino Acid Disorders |
| Gene/Platform/Region List | PAH |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances) |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | Sequencing + MLPA |
| Diseases/Conditions | Phenylalanine hydroxylase (PAH) deficiency |