Carnitine Palmitoyltransferase II Deficiency: CPT2 Gene Deletion/Duplication

Condition Description

Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. There are three clinical presentations: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form that is usually mild and can manifest from infancy to adulthood. The former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death. The myopathic form is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. While the disorder is inherited in an autosomal recessive manner, males are more likely to be affected than females, for currently unknown reasons.

Tandem mass spectrometric measurement of serum/plasma acylcarnitines can be used as an initial screening test. The finding suggestive of a defect in mitochondrial beta-oxidation (and thus suspect for CPT II deficiency) is an elevation of C12 to C18 acylcarnitines, notably of C16 and C18:1. Diagnosis can be made by detection of reduced CPT enzyme activity, however, measured enzyme activity is dependent on assay conditions, which have not been standardized, making comparisons of published data from different laboratories difficult. Molecular genetic testing of CPT2 (1p32), the only gene known to be associated with CPT II deficiency, provides additional means for noninvasive, rapid, and specific diagnosis. Carriers can be detected by measuring enzyme activity in muscle homogenates; no data regarding the use of MS/MS for carrier detection are available. When causative mutations are known, carrier testing should rely on molecular genetic methods.

Sequencing of the CPT2 gene is recommended after a biochemical analysis consistent with CPT II, and provides a complementary method to confirm the presence of mutations in a proband, identify carriers among the proband's relatives, and provide prenatal diagnosis in families with known mutations.


Genes (1)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.


This test is indicated for:
  • Confirmation of a clinical/biochemical diagnosis of CPT II.
  • Carrier testing in adults with a family history of CPT II.


DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.


Detection is limited to duplications and deletions. Array CGH will not detect point mutations or intronic mutations. Results of molecular analysis must interpreted in the context of the patient's clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.

Special Instructions

Submit copies of diagnostic biochemical test results with the sample. Contact the laboratory if further information is needed. Sequence analysis is required before deletion/duplication analysis by targeted CGH array. If sequencing is performed outside of EGL Genetics, please submit a copy of the sequencing report with the test requisition.
  • Acylcarnitine profile (AR).
  • Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by sequencing.
  • Prenatal testing is available to couples who are confirmed carriers ofmutations. Please contact the laboratory genetic counselor to discussappropriate testing prior to collecting a prenatal specimen.

How to Order