Research on the presence of variants in Maternal Effect Proteins (MEP) genes (patients with Beckwith-Wiedemann Syndrome (BWS) and Silver Russell Syndrome (SRS)), we have available an unique targeted NGS panel containing DNMT1, DPPA3, KHDC3L, NLRP2, NLRP5, NLRP7, OOEP, PADI6, TLE6, TRIM28, UHRF1, ZAR1 and ZEP57,
Since this is a rare disorder, the price of this panel is dependent on the number of samples. Let’s run samples together.
This panel cannot be ordered via our catalog. Inquiries can be made, with respect to Dr J. Bliek: kg-dna@AMC.nl.
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.
Genetic testing of familial hypercholesterolemia (FH). Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic disorder, genetic testing is rarely used. With costs of next-generation DNA sequencing continuing to fall, genetic testing for FH has become more accessible. Most importantly, genetic testing provides a window of opportunity whereby we can identify those individuals at significantly higher risk than the general population for CAD at a given LDL-C level. Early recognition of FH leading to guideline-based therapy will alter the natural history of this highly morbid genetic condition. Read the full article
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