Dyslipidemia and Familial Hypercholesterolemia (FH)
As an European referral center for genetic testing in FH we have designed an utmost economic and high quality and very sensitive 29-gene panel coding- and flanking regions of genes that have been repeatedly shown to cause lipid disorders. This panel covers most dyslipidemias, including FH, hypo-alphalipoproteinemia (low HDL-cholesterol), hyper-alphalipoproteinemia (high HDL-cholesterol), hypo-betalipoproteinemia (low LDL-cholesterol), dysbetalipoproteinemia (APOE-genotyping) and hypertriglyceridemia (high triglycerides), but also rare diseases including chylomicron retention disease and cerebrotendinous xanthomatosis.
Broad coverage of dyslipidemias is efficient and indispensable, as the phenotypic heterogeneity is large and different dyslipidemic phenotypes are closely connected. This often hinders correct diagnosis. This broad panel of dyslipidemias is therefore encouraged to minimize miss-and under-diagnosis. This sensitive Dyslipidemia panel is a targeted NGS plus CNV-analyses and has a coverage of 100%.
The test is strongly recommended for patients:
- That present with abnormally high or low lipid levels, such as LDL-cholesterol, HDL-cholesterol, triglycerides, apolipoprotein B or apolipoprotein A1.
- That present with typical clinical phenotypic features of lipid disorders, such as xanthomas.
- That have experienced coronary heart disease and have a strong family history of heart diseases.
- That need to be screened before entering clinical trials.
Next to the Dyslipidemia panel, we offer simple and fast genetic analyses of single variants in those genes. This is recommended for individuals with first-degree relatives that carry a known pathogenic variant.