Genetic Test Details

b-ketothiolase deficiency

Test Information

Titre
b-ketothiolase deficiency
Catégorie
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

Dernière Mise à Jour: 18 juin 2025