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
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
CNV, Sequencing
Methodology Notes
Sequencing + MLPA
Disease/Condition
Phenylalanine hydroxylase (PAH) deficiency

Dernière Mise à Jour: 05 septembre 2025