Genetic Test Details
Phenylketonuria: PAH deficiency
Test Information
- Titre
- Phenylketonuria: PAH deficiency
- Catégorie
- Metabolic
- Sub Category
- Amino Acid Disorders
- Gene/Platform/Region List
- PAH
- Test type
- Single Gene
- Samples Accepted
- DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- Sequencing , CNV
- Methodology Notes
- Sequencing + MLPA
- Disease/Condition
- Phenylalanine hydroxylase (PAH) deficiency
Dernière Mise à Jour: 18 juin 2025