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