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
Blood, DNA
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Ketothiolase deficiency, Beta-keta thiolase deficiency

Dernière Mise à Jour: 05 septembre 2025