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Phenylketonuria
Test Information
- Title
-
Phenylketonuria
- Category
- Metabolic
- Test Name (CMS Title)
-
Amino Acid Disorders
- Test type
- Samples Accepted
- Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
- 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: December 09, 2025
