Fatty Acid Oxidation Diseases: Other

Test Information

Titre
Fatty Acid Oxidation Diseases: Other
Lab
Catégorie
Metabolic
Test Name (CMS Title)
Fatty Acid Oxidation Diseases
Gene/Platform/Region List
ACAA2, ACAD9, ACADL, ACADS, ECHS1, HADH
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnostics, Carrier Cascade Testing
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: 09 décembre 2025