Glutaric Aciduria Type 1
| Test Information | |
|---|---|
| Test Name | Glutaric Aciduria Type 1 |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Organic Acid Disorders |
| Gene/Platform/Region List | GCDH |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances) |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Diseases/Conditions | Glutaric Aciduria type I (GA-1), GCDH Deficiency, Glutaric Aciduria Type 1, Glutaryl-CoA Dehydrogenase Deficiency |