Apolipoprotein C-II Deficiency
Sequencing of the APOC2 gene
|Lab method:||Sanger sequencing|
|Specimen requirements:||2-4 ml of blood with anticoagulant EDTA
300 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
|Ordering information:||Go to online ordering or download sample submission form|
Indications for genetic testing:
- Differential diagnosis
- Predictive testing
- Risk assessment of relatives
- Genetic counseling
Apolipoprotein C-II (APOC2) deficiency is a rare autosomal recessive disorder with hypertriglyceridemia resulting from impaired activation of lipoprotein lipase. Patients show severe hypertriglyceridemia and chylomicronemia and often manifest xanthomas, lipemia retinalis and pancreatitis. Hypertriglyceridemia is also an important risk factor for development of cardiovascular disease.
In most cases of APOC2 deficiency, causative mutations have been found in the protein-coding region of APOC2 gene.
Takase S et al. Apolipoprotein C-II deficiency with no rare variant in the APOC2 gene. J Atheroscler Thromb. 2013;20(5):481-93. Epub 2013 Mar 7.
Watts GF et al. Demystifying the management of hypertriglyceridaemia. Nat. Rev. Cardiol. 10, 648-661. doi:10.1038/nrcardio.2013.140
Wei CF et al. The structure of the human apolipoprotein C-II gene. Electron microscopic analysis of RNA:DNA hybrids, complete nucleotide sequence, and identification of 5’ homologous sequences among apolipoprotein genes. J Biol Chem, 1985; 260: 15211-15221