Genetic Test Details
Phenylketonuria
Test Information
- Title
- Phenylketonuria
- Category
- Metabolic
- Sub Category
- Amino Acid Disorders
- Test type
- Gene Panel
- Samples Accepted
- DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- Sequencing
- Methodology Notes
- PAH, DNAJC12, GCH1, PCBD1, PTS, QDPR, SPR
- Disease/Condition
- Phenylketonuria, DNAJC12 Deficiency, GTP Cyclohydrolase Deficiency, DOPA-Responsive Dystonia, PCBD1 Deficiency, PTS Deficiency, QDPR Deficiency, Sepiapterin Reductase Deficiency
Last Updated: June 23, 2025