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