Genetic Test Details

GTP Cyclohydrolase-1 related disorders (GCH1)

Test Information

Title
GTP Cyclohydrolase-1 related disorders (GCH1)
Lab
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 23, 2025

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