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Institute of Metabolic Disease at Baylor Research Institute
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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) DNA analysis (C1528)
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder of fatty-acid oxidation. The common mutation, C1528, accounts for approximately 75 percent of all mutations related to LCHAD deficiency.
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) tube 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 and 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 receipt of sample.
CPT Code: 83890, 83892, 83894, 83898, 83912
Cost: $150.00
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.
Related tests: Acylcarnitine Profile, Mitochondrial Beta Oxidation Defects, Supplemental Newborn Screening
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