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
DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Carrier Cascade Testing , Diagnosis
Test Methodology
Sequencing
Disease/Condition
Succinic semialdehyde dehydrogenase deficiency, 4-hydroxybutyric aciduria SSADH deficiency

Last Updated: June 23, 2025