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
|