Genetic Test Details
Phenylketonuria: PAH deficiency
Test Information
- Title
- Phenylketonuria: PAH deficiency
- Category
- 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
Last Updated: June 23, 2025