Hypertriglyceridemia NGS panel

Genes
(full coding
region):		 APOA5, APOC2, GPD1, GPIHBP1, LMF1, LPL
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Testing at risk family members
3. Genetic counseling

Hypertriglyceridemia (HTG) is characterized by high triglyceride (TG) levels due to an isolated elevation of VLDL (very low density lipoproteins) particles, which results from both overproduction and decreased elimination of these particles. HTG is classified as “primary”, when an inherited basis is suspected, or “secondary”, when one or more secondary factors contribute to the clinical presentation. Primary HTG includes genetic defects in TG synthesis or metabolism. Secondary HTG is often caused by poorly controlled diabetes, alcohol use, obesity, and metabolic syndrome.

Primary HTG is associated with an increased risk of cardiovascular diseases, obesity, diabetes, hypertension, and hyperuricemia.

Severe hypertriglyceridemia is defined at a plasma TG concentration of >11.2 mmol/L. The typical symptom is recurrent, sometimes severe abdominal pain, which can result in acute pancreatitis.

References:
Hegele RA 2009. Plasma lipoproteins: Genetic influences and clinical implications. Nat. Rev. Genet. 2009;10:109–121. doi: 10.1038/nrg2481.
Johansen CT and Hegele R 2012. Allelic and phenotypic spectrum of plasma triglycerides. Biochim Biophys Acta. 2012 May; 1821(5):833-42.
Yuan Get al 2007. Hypertriglyceridemia: its etiology, effects and treatment. CMAJ. 2007 Apr 10; 176(8):1113-20.