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ACYLCARNITINE PROFILE, QUANTITATIVE

Test Code: ACYLP
Description:

This test identifies patients with disorders of fatty acid and transport, including medium-chain acyl-CoA dehydrogenase (MCAD) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies, carnitine palmitoyltransferase II and carnitine/acylcarnitine translocase deficiencies. Certain organic acid disorders are also identified, including propionic acidemia, methylmalonic acidemia, isovaleric acidemia and others. Clinical history should be provided to the laboratory for optimal interpretation of results. Note: This test is often performed in conjunction with urine organic acid analysis and carnitine determination (free and total).

 


 
 


 
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