Hyperlipoproteinemia, type 5
Sequencing of the APOA5 gene
|Lab method:||Sanger sequencing|
|Specimen requirements:||2-4 ml of blood with anticoagulant EDTA
500 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:
1. Confirmation of clinical diagnosis
2. Testing at risk family members
3. Characteristic findings such as xanthomas
4. Genetic counseling
Hyperlipoproteinemia, type 5 (HLP5) is accompanied by an increase in VLDV (very low density lipoproteins) as well as chylomicrons and a decrease in LDL (low density lipoprotein) and HDL (high density lipoprotein) in the plasma after a fast. HLP5 includes a wide range of pathological conditions having both congenital and acquired aspects and exhibiting moderate to marked hypertriglyceridemia. Features include abdominal pain and eruptive xanthoma. Hyperlipidemia is frequently complicated by pancreatitis.
HLP5 can be caused by mutations in the APOA5 gene. The disease is inherited in an autosomal dominant or an autosomal recessive manner.
Fredrickson DS et al 1966. Familial hyperlipoproteinemia. The Metabolic Basis of Inherited Disease. (2nd ed.) New York: McGraw-Hill (pub.) 1966.
Gotoda T et al 2012. Diagnosis and Management of Type I and Type V Hyperlipoproteinemia. Journal of Atherosclerosis and Thrombosis. 2012;19(1):1-12. doi: 10.5551/jat.10702. Epub 2011 Dec 1.