Genetic Test Details
GTP Cyclohydrolase-1 related disorders (GCH1)
Test Information
- Titre
-
GTP Cyclohydrolase-1 related disorders (GCH1)
- Catégorie
- Neurogenetics
- Sub Category
-
GTP Cyclohydrolase-1 related disorders
- Gene/Platform/Region List
-
GCH1
- Test type
- Single Gene
- Samples Accepted
- Blood , DNA , Cultured Cells , Buccal Swab , Saliva
- Indications
- Diagnostics , Carrier Cascade Testing , Prenatal
- Test Methodology
- Sequencing
- Disease/Condition
-
GTPCH1-deficient DRD, TH-deficient DRD, Hyperphenylalaninemia, tetrahydrobiopterin-deficient,
Dernière Mise à Jour: 18 juin 2025