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Institute of Metabolic Disease at Baylor Research Institute
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Carnitine palmitoyltransferase II deficiency (CPT II) DNA analysis (S113L)
Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder of fatty-acid oxidation and has three distinct clinical phenotypes:
• onset and death in the first week of life (Neonatal form)
• initial symptoms of hypoglycemia occurring later in infancy (late infantile)
• adult-onset characterized by recurrent rhabdomyolysis (Adult-onset)
One common mutation in adult CPT II deficiency is the S113L substitution. This mutation accounts for approximately 60% percent of all mutations related to CPT II 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 of whole blood 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.
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: 2 weeks from sample receipt
Cost: $150.00
CPT code: 83890, 83892, 83894, 83898, 83912
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, CPTII-Panel of 8 mutations, CPTII – Unknown Mutation detection by DNA Sequencing
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