GTP Cyclohydrolase-1 related disorders (GCH1)

Test Information

Title
GTP Cyclohydrolase-1 related disorders (GCH1)
Lab
Category
Neurogenetics
Test Name (CMS Title)
GTP Cyclohydrolase-1 related disorders
Gene/Platform/Region List
GCH1
Test type
Single Gene
Samples Accepted
Blood, DNA, Buccal Swab, Saliva
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
GTPCH1-deficient DRD, TH-deficient DRD, Hyperphenylalaninemia, tetrahydrobiopterin-deficient,

Last Updated: November 14, 2025

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