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, Buccal Swab, Saliva
Indications
Diagnosis, Carrier Cascade Testing, Prenatal
Test Methodology
Sequencing
Disease/Condition

GTPCH1-deficient DRD, TH-deficient DRD, Hyperphenylalaninemia, tetrahydrobiopterin-deficient,

Last Updated: June 04, 2026