Molecular Genetic Testing
Familial Hyperlipoproteinemia Typ III (Dysbetalipoproteinemia)

Indication and Diagnostic Value

Triglyceride - and cholesterol plasma levels above 200mg/dl, and a family history for cardiovascular diseases are indicating a genetic test for Dysbetalipoproteinemia. This disease is associated with a mutation in the Apolipoprotein E – gene. Homozygous carriers of the Apo E 2 mutation have a significantly increased risk for arteriosclerosis. Symptoms are early development of heart diseases with high infarct incidence. The mutated form, ApoE-2, is an essential condition for the development of disbetalipoproteinemia because it prevents the metabolic destruction of VLDL-particles in the blood and leads to the enrichment of cholesterol and triglycerides. About 1 of 50 individuals in the general population carries this mutation. Besides of the genetic defect, additional environmental factors such as diet or diabetes are necessary to trigger disease onset. Genetic testing will identify risk patients and their family members, which are candidates for appropriate prophylaxis.

Samples and Test Method

IMMD blood stain test paper is required. By using PCR and restiction fragment analysis the test unambiguously identifies the ApoE-2 mutation in its heterozygous and homozygous form (Arg158→Cys). In parallel, the ApoE-3 and ApoE-4 alleles are identified. The specificity is almost 100%.

Turnaround time for this test is 10 days.


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