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