Genetic Test Details
Phenylketonuria
Test Information
- Title
-
Phenylketonuria
- Category
- Metabolic
- Sub Category
-
Amino Acid Disorders
- Test type
- Gene Panel
- Samples Accepted
- Blood, DNA
- Indications
- Diagnosis, Carrier Cascade Testing
- 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: January 06, 2026