Molecular Genetic Testing
Loss of Function of Hepatic Lipase (LIPC)

Indication and Diagnostic Value

According to many epidemiological studies, low HDL-concentrations (< 1.5 mmol/l or < 58 mg/dl) represent an independent risk factor for cardiovascular diseases. Among other factors mutations in the gene of the Hepatic Lipase contribute to decreased HDL-concentrations. The enzyme LIPC is a plasma lipolytic enzyme that participates in metabolizing intermediate-density lipoprotein and large LDL into smaller LDL particles, and in converting HDL2 to HDL3. A common mutation on the 5`flanking region of the HL gene, -514 (C/T), is particularly associated with impaired HDL metabolism. Subjects carrying the CC genotype react to higher content of fat in their diets by increasing the HDL – cholesterol concentrations. Conversely, carriers of the TT genotype experience decreases on the HDL-cholesterol levels.
The genetic test thus identifies patients susceptible to diet-induced atherosclerosis.

Samples and Test Method

IMMD blood stain test paper is required. The PCR based test uses restriction fragment analysis by NIaIII to identify genotypes C/C and C/T unambiguously. The specificity is close to 100%.

Turnaround time for this test is 2 weeks.

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