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
- Blood, DNA
- Indications
- Diagnosis, Carrier Cascade Testing
- Test Methodology
- CNV, Sequencing
- Methodology Notes
-
Sequencing + MLPA
- Disease/Condition
-
Phenylalanine hydroxylase (PAH) deficiency
Last Updated: November 26, 2025