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Institute of Metabolic Disease at Baylor Research Institute
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MCAD DNA (A985G)
Medium Chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common inborn errors of metabolism. MCAD deficiency is an autosomal recessive disorder of fatty acid oxidation. This DNA analysis tests for the common mutation of MCAD, 985A>G, which accounts for approximately 85% of MCAD deficiencies.
Download Test Requisition
Department: Molecular Diagnostics
Methodology: Polymerase Chain Reaction (PCR) and Restriction Enzyme Digestion.
Sample:
• Dried blood spot card (preferred) – 5 completely filled spots.
• Whole Blood - 1 mL collected in an EDTA (lavender top) or ACD (yellow top) tube. For ACD tube, either solution A or B is acceptable. Minimum sample volume – 0.5 mL
• Fibroblasts - 2 confluent T-25 flasks
Shipping/Handling:
• Dried blood spot card (preferred) and Whole Blood– Ship overnight at room temperature using a guaranteed overnight courier.
• Fibroblasts - Ship overnight Monday through Wednesday only. Ship at room temperature using a guaranteed overnight courier.
Turnaround time: 2 weeks from sample receipt
Prenatal Diagnosis:
Prenatal diagnosis is available by this method. Please contact the IMD Medical Director, the Mass Spectrometry Laboratory Director or the Molecular Diagnostic Laboratory Director to discuss testing and obtain sample collection/handling information PRIOR to sample submission.
Cost: $150.00
CPT Codes: 83890, 83892, 83894, 83898, 83912
Related tests: Acylcarnitine Profile, Urine Organic Acids, Supplemental Newborn Screening, MCAD -panel of 8 mutations, MCAD - Unknown Mutation detection by DNA Sequencing
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