GTP Cyclohydrolase-1 related disorders (GCH1)
Test Information
- Titre
-
GTP Cyclohydrolase-1 related disorders (GCH1)
- Catégorie
- Neurogenetics
- Test Name (CMS Title)
-
GTP Cyclohydrolase-1 related disorders
- Gene/Platform/Region List
-
GCH1
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA, Buccal Swab, Saliva
- Indications
- Diagnostics, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
GTPCH1-deficient DRD, TH-deficient DRD, Hyperphenylalaninemia, tetrahydrobiopterin-deficient,
Dernière Mise à Jour: 09 décembre 2025