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
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Succinic semialdehyde dehydrogenase deficiency, 4-hydroxybutyric aciduria SSADH deficiency

Last Updated: November 26, 2025