Genetic Test Details
Succinic semialdehyde dehydrogenase deficiency
Test Information
- Title
-
Succinic semialdehyde dehydrogenase deficiency
- Category
- Metabolic
- Sub Category
-
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 , Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Succinic semialdehyde dehydrogenase deficiency, 4-hydroxybutyric aciduria SSADH deficiency
Last Updated: June 23, 2025