Genetic Test Details

Phenylketonuria: Biopterin deficiencies

Test Information

Titre
Phenylketonuria: Biopterin deficiencies
Catégorie
Metabolic
Sub Category
Amino Acid Disorders
Gene/Platform/Region List
DNAJC12, GCH1, PCBD1, PTS, QDPR, SPR
Test type
Gene Panel
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Biopterin deficiencies

Dernière Mise à Jour: 05 septembre 2025