Genetic Test Details
GTP Cyclohydrolase-1 related disorders (GCH1)
Test Information
- Title
-
GTP Cyclohydrolase-1 related disorders (GCH1)
- Category
- Neurogenetics
- Sub Category
-
GTP Cyclohydrolase-1 related disorders
- Gene/Platform/Region List
-
GCH1
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA, Cultured Cells
- Indications
- Diagnosis, Carrier Cascade Testing, Prenatal
- Test Methodology
- Sequencing
- Disease/Condition
-
GTPCH1-deficient DRD, TH-deficient DRD, Hyperphenylalaninemia, tetrahydrobiopterin-deficient,
Last Updated: November 26, 2025