Carnitine palmitoyltransferase II deficiency: CPT2 Sequencing

Diagnostic Use

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.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Synonyms

CPTII

Turnaround Time

4 weeks

Test Code

4562

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Minimum Sample Volume (ml)

0.5

Additional Specimen Information

This genetic analysis needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature)

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

This genetic analysis needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature)

Interpretation

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

Reference Intervals

NCBI Reference Sequence: NM_000098.2

Test Method

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.

Non-Funded Test Cost

$225.97 (Exclusive of GST)

Billing Code

4562

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.

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.

Contact Information

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