Genetic Test Details

b-ketothiolase deficiency

Test Information

Title
b-ketothiolase deficiency
Category
Metabolic
Sub Category
Organic Acid Disorders
Gene/Platform/Region List
ACAT1
Test type
Single Gene
Samples Accepted
Blood, DNA
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Ketothiolase deficiency, Beta-keta thiolase deficiency

Last Updated: November 26, 2025