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Institute of Metabolic Disease at Baylor Research Institute
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CPT II DNA Analysis -Panel of 8 Mutations
Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder in the metabolism of fatty acid oxidation resulting in the inability to convert long-chain acylcarnitines to their acyl-CoAs in the mitochondria for subsequent oxidation.
This panel tests for eight known CPTII mutations:
R124Stop
P227L
Q413fs (1238-39delAG)
Q550R
L178F (534Tins/25bpdel)
P604S
S38fs (GCinsertion)
R631C
This panel does not test for the common mutation of CPTII (S113L)
Download Test Requisition
Department: Molecular Diagnostics
Methodology: Multiple Polymerase Chain Reaction (PCR) and Restriction Enzyme Digestion
Sample:
• Whole Blood (preferred) - 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
• Dried blood spot card - 5 completely filled spots
• Fibroblasts - 2 confluent T-25 flasks
Shipping/Handling:
• Dried blood spot card and Whole Blood (preferred) – 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.
Panel cost - $850.00
Individual mutation cost - $150.00
Special Notes:
If an individual mutation test is desired, the mutation to be tested must be indicated on the testing requisition.
Turnaround time: 4-6 weeks from receipt of sample.
CPT codes: 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.
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, Carnitine palmitoyltransferase II deficiency (CPT II) DNA analysis (S113L), Mitochondrial Beta Oxidation Defects, Supplemental Newborn Screening, Unknown CPTII Mutation detection by DNA Sequencing
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