Disorders


 

Fatty Acid Oxidation Disorders Multi-Gene Panels


May include testing for: Acyl-CoA Dehydrogenase 9 Deficiency, Carnitine Palmitoyltransferase IA Deficiency, Carnitine Palmitoyltransferase II Deficiency, Carnitine-Acylcarnitine Translocase Deficiency, Glutaric Acidemia II, Glutaric Aciduria II, Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency, Multiple Acyl-CoA Dehydrogenase Deficiency, Short Chain Acyl-CoA Dehydrogenase Deficiency, Systemic Primary Carnitine Deficiency, Trifunctional Protein Deficiency, Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency

 


Laboratory
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
GeneDx - Gaithersburg, MD, USA

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