GTP Cyclohydrolase-1 related disorders (GCH1)
| Test Information | |
|---|---|
| Test Name | GTP Cyclohydrolase-1 related disorders (GCH1) |
| Lab (Location) | London Health Sciences Centre |
| Category | Neurogenetics |
| Subcategory | GTP Cyclohydrolase-1 related disorders |
| Gene/Platform/Region List | GCH1 |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA, Cultured Cells, Buccal, Saliva |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | Sequencing |
| Diseases/Conditions | GTPCH1-deficient DRD, TH-deficient DRD, Hyperphenylalaninemia, tetrahydrobiopterin-deficient, |