Fatty Acid Oxidation Diseases: Other

Test Information

Title
Fatty Acid Oxidation Diseases: Other
Lab
Category
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
Diagnosis, 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).

Last Updated: November 14, 2025

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