UPDATE Epigenetic EpiSign tests: to establish a diagnosis or help resolve variants of uncertain significance (VUS) for over 40 genetic syndromes. Check the Episign list of disorders and genes for all the disorders, genes and the disclaimer.
The successful EpiSign tests have had an incredible update for diagnostic purposes. The identification of 34 robust disease-specific episignatures of 42 genetic syndromes can be diagnosed with a single test. This test more than doubles the number of published syndromes with DNA methylation episignatures and opens new avenues for accurate diagnosis and clinical assessment in individuals affected by these disorders.
Current diagnostic technologies such as whole exome sequencing are not able to assess non-coding and more complex variants, and cannot provide information on epigenetic changes. This technology provides a new level of analysis beyond the genome. For more in-dept information read our publication EpiSign AJHG 2020.
Epigenetic EpiSign explained on ASHG tv:
Dyslipidemia and Familial Hypercholesterolemia (FH)
As an European reference 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.
Amsterdam UMC Genome Diagnostics offers now targeted gene testing for obesity. See Obesity Genetics on ASHG TV October 2019:
The involvement of genetic factors in the development of obesity is estimated to be 40-70%. Clinical relevant genes may influence obese patient’ response to weight management. The obesity panel was previously performed using a WES based virtual gene panel including 52 genes. Obesity panel has been further developed as a NGS-based capture panel for economic and reliable screening for inherited obesity. The coverage of this obesity gene-panel is 100%. The purpose of this AGDx NGS – Obesitome panel is to offer relevant diagnostic testing. Since we have many requests for this panel, you can order this panel for a very special economic price. Upon request the WES based virtual gene panel of 52 genes (or including specific other obesity related genes) can be performed. For this test, please order custom WES. In case your patient has both ID and obesity a trio WES can be performed. In this case both the ID panel as well as the large obesity gene panel (including 52 genes) can be analyzed.