Carnitine Palmitoyltransferase II Deficiency: CPT2 Sequencing

Test Information

CPT2 sequencing is a molecular test used to identify variants in the gene associated with Carnitine Palmitoyltransferase II Deficiency.

Turnaround Time

2 weeks

CPT Code(s)

81404

Cost

$1,000

Genes

  • CPT2

Clinical Information

Carnitine palmitoyltransferase II deficiency is an autosomal recessive disorder of long-chain fatty acid oxidation with three variable phenotypes described. The lethal neonatal form and the severe infantile hepatocardiomuscular form are severe multisystemic disorders. These patients have hypoketotic hypoglycemia with liver failure, cardiomyopathy, seizures, and early death. The 3rd clinical presentation is less a severe myopathic form characterized by exercise-induced muscle pain and weakness, sometimes with myoglobinuria.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Methodology

Sanger Sequencing

Detection

Sequencing of the CPT2 gene will detect a mutataion in more than 95% of individuals with deficient enzyme activity.

Specimen Requirements

The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

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