Phenylketonuria: PAH deficiency
Test Information
- Titre
-
Phenylketonuria: PAH deficiency
- Catégorie
- Metabolic
- Test Name (CMS Title)
-
Amino Acid Disorders
- Gene/Platform/Region List
-
PAH
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnostics, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Methodology Notes
-
Sequencing + MLPA
- Disease/Condition
-
Phenylalanine hydroxylase (PAH) deficiency
Dernière Mise à Jour: 09 décembre 2025