Phenylketonuria

Test Information

Title
Phenylketonuria
Lab
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: November 14, 2025

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