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Institute of Metabolic Disease at Baylor Research Institute
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MCAD DNA -Panel of 8 mutations
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 following mutations:
244 insT
250 C>T
322-325 del
503 A>G
616 C>T
617 G>A
799 G>A
583 G>A
This panel does not test for the common mutation of MCAD (A985G)
Download Test Requisition
Department: Molecular Diagnostics
Methodology: Polymerase Chain Reaction (PCR) and Restriction Enzyme Digestion
Sample:
• Whole Blood (preferred) - 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
• Dried blood spot card– 5 completely filled spots.
• Fibroblasts - 2 confluent T-25 flasks
Shipping/Handling:
• Whole Blood (preferred) and Dried blood spot card– 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.
Special notes:
If an individual mutation test is desired, the mutation to be tested must be indicated on the testing requisition.
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.
Turnaround time: 4-6 weeks from receipt of sample.
Panel cost: $850.00
Individual mutation cost: $150.00
CPT code: 83890, 83892*, 83894*, 83898* and 83912
* The CPT codes 83892, 83894 and 83898 should be multiplied by 8 when ordering the entire panel or multiplied by the number of mutations when ordering individual mutations.
Related Tests: Medium-chain acyl-CoA dehydrogenase (MCAD) DNA analysis (A985G), Acylcarnitine Profile, Urine Organic Acids, Supplemental Newborn Screening, MCAD - Unknown Mutation detection by DNA Sequencing
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