b-ketothiolase deficiency
Test Information
- Titre
-
b-ketothiolase deficiency
- Catégorie
- Metabolic
- Test Name (CMS Title)
-
Organic Acid Disorders
- Gene/Platform/Region List
-
ACAT1
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnostics, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Ketothiolase deficiency, Beta-keta thiolase deficiency
Dernière Mise à Jour: 09 décembre 2025