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
- DNA , Saliva , Blood , Cultured Cells , Buccal Swab
- Indications
- Carrier Cascade Testing , Diagnosis , Prenatal
- Test Methodology
- Sequencing
- Disease/Condition
- GTPCH1-deficient DRD, TH-deficient DRD, Hyperphenylalaninemia, tetrahydrobiopterin-deficient,
Dernière Mise à Jour: 18 juin 2025