Genetic Test Details

Fatty Acid Oxidation Diseases: Other

Test Information

Titre
Fatty Acid Oxidation Diseases: Other
Catégorie
Metabolic
Sub Category
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
ACAA2, ACAD9, ACADL, ACADS, ECHS1, HADH
Test type
Gene Panel
Samples Accepted
DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Carrier Cascade Testing , Diagnosis
Test Methodology
Sequencing
Disease/Condition
Acetyl-CoA transferase, Mitochondrial Complex I Deficiency, Nuclear Type 20, LCAD, SCAD, Enoyl-CoA Hydratase Deficiency, Hydroxyacyl-CoA Dehydrogenase Deficiency (SCHAD).

Dernière Mise à Jour: 18 juin 2025