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
DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Carrier Cascade Testing , Diagnosis
Test Methodology
Sequencing
Disease/Condition
Biopterin deficiencies

Dernière Mise à Jour: 18 juin 2025