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Phone Icon Phone Support:  1-800-876-0243     Mail Icon  info@amsreferencelab.com     Location Icon 2916 E. Central Wichita, KS 67214    
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Test ID: ZH168

Medium-Chain Acyl-CoA Dehrogenase Deficiency

  • CPT Code: 81479
  • LOINC:
  • Specimen Type: EDTA or ACD whole blood
  • Frequency: Setup: Varies; Analytic time 14 days
  • Instructions: 3mL whole blood in original lavender tube, ambient. Alt/ whole blood in original ACD tube, cultured fibroblasts, Skin biopsy, blood spot.
  • Text: Useful for Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (as a follow up to biochemical analyses),Screening of at-risk carriers of MCAD deficiency when an affected relative has not had molecular testing. Must arrive at Mayo within 96 hrs of collection.
  • Methodology: Polymerase Chain Reaction Amplification/DNA sequencing

 

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