Phenylketonuria: Biopterin deficiencies
Phenylketonuria: Biopterin deficiencies
Test Information
- Title
-
Phenylketonuria: Biopterin deficiencies
- Category
- Metabolic
- Sub Category
-
Amino Acid Disorders
- Gene/Platform/Region List
-
DNAJC12, GCH1, PCBD1, PTS, QDPR, SPR
- Test type
- Gene Panel
- Samples Accepted
- Blood , DNA , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnosis , Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Biopterin deficiencies
Last Updated: June 23, 2025