Genetic Test Details
Phenylketonuria: Biopterin deficiencies
Test Information
- Titre
- Phenylketonuria: Biopterin deficiencies
- Catégorie
- Metabolic
- Sub Category
- Amino Acid Disorders
- Gene/Platform/Region List
- DNAJC12, GCH1, PCBD1, PTS, QDPR, SPR
- Test type
- Gene Panel
- Samples Accepted
- DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- Sequencing
- Disease/Condition
- Biopterin deficiencies
Dernière Mise à Jour: 24 juin 2025