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
- DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- Sequencing
- Disease/Condition
- Ketothiolase deficiency, Beta-keta thiolase deficiency
Last Updated: June 23, 2025