Succinic semialdehyde dehydrogenase deficiency

Test Information
Test Name Succinic semialdehyde dehydrogenase deficiency
Lab (Location) Newborn Screening Ontario
Category Metabolic
Subcategory Organic Acid Disorders
Gene/Platform/Region List ALDH5A1
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 Succinic semialdehyde dehydrogenase deficiency, 4-hydroxybutyric aciduria SSADH deficiency