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Test Identifier Information

Registration CodeMUTA 03

Exon 3 of the CPT2 gene is analysed by bidirectional DNA sequencing for the common deficiency variant c.338C>T (p.Ser113Leu). Further analysis of the remaining exons is performed if the patient is heterozygous for this variant, unless otherwise indicated.

Diagnostic Use / Indications

Defects in the CPT2 gene are the cause of carnitine palmitoyltransferase II deficiency (CPT II deficiency) [MIM:255110,600649]. CPT II deficiency is an autosomal recessive disorder characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are triggered by prolonged exercise, fasting or viral infection and patients are usually young adults. In addition to this classical, late-onset, muscular type, a hepatic or hepatocardiomuscular form has been reported in infants. Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death.

Constituent TestsGenomic DNA Extraction ;
External Price$199.01(Exclusive of GST)

Specimen Collection

Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Aliquot Transport to CHLAmbient

CHLabs Laboratory

DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Reference Interval

NCBI Reference Sequence: NM_000098.2


The finding of two pathogenic sequence variants in a symptomatic individual supports a diagnosis of CPT II deficiency.

Uncertainty of Measurement

 Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%.  This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Additional Information
  1. This genetic analysis needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
  2. Genomic DNA must be extracted from samples prior to testing. This incurs an additional charge. Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms / microlitre.
  3. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).


Delphic Number Test Number4562

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