Genetic Test Details

GTP Cyclohydrolase-1 related disorders (GCH1)

Test Information

Titre
GTP Cyclohydrolase-1 related disorders (GCH1)
Catégorie
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
Diagnostics , Carrier Cascade Testing , Prenatal
Test Methodology
Sequencing
Disease/Condition
GTPCH1-deficient DRD, TH-deficient DRD, Hyperphenylalaninemia, tetrahydrobiopterin-deficient,

Dernière Mise à Jour: 18 juin 2025