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
- Blood , DNA , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnostics , Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Biopterin deficiencies
Dernière Mise à Jour: 18 juin 2025