| Test Information |
| Test Name |
Phenylketonuria |
| Lab (Location) |
Newborn Screening Ontario |
| Category |
Metabolic |
| Subcategory |
Amino Acid Disorders |
| Test type |
Gene Panel |
| Samples Accepted |
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances) |
| Indications Diagnosis |
Diagnosis, Carrier / Cascade Testing |
| Test Methodology |
Sequencing |
| Methodology Notes |
PAH, DNAJC12, GCH1, PCBD1, PTS, QDPR, SPR |
| Diseases/Conditions |
Phenylketonuria, DNAJC12 Deficiency, GTP Cyclohydrolase Deficiency, DOPA-Responsive Dystonia, PCBD1 Deficiency, PTS Deficiency, QDPR Deficiency, Sepiapterin Reductase Deficiency |
