Molecular Genetic Testing
Apolipoprotein A-I-Deficiency

Indication and Diagnostic Value

Low plasma concentrations of HDL – cholesterol are associated with an enhanced risk for developing cardiovascular diseases. This inverse relationship is explained by the function of HDL-particles which are carrying cholesterol from peripheral cells back into the liver. The efficiency of this transport largely depends on the presence of intact Apolipoprotein A molecules representing the central HDL-component. Different genetic alterations of Apolipoprotein A may disturb its synthesis and function. Most important, heterozygous carriers of mutations in the exons1-4 are distinguished by HDL- and ApoA-I concentrations that are 50% lower than those of respective wild-type carriers (correspondingly <30 and 70mg/dl, Arterioscler. Thromb. Vasc. Biol. 27, 1139, 2007).
The genetic test defines patients with a predisposition for cardiovascular diseases and helps to lay down therapeutic interventions.

Samples and Test Method

IMMD blood stain test paper is required. The PCR-based test includes DNA sequence analysis of exons 1-4 of the APOA1-gene including the promoter region. The specificity is close to 100%.

Turnaround time for this test is 4 weeks.

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