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