New diagnostic test developed in collaboration with Clinical Genetics Amsterdam UMC, effective for providing conclusive genetic tests.
Amsterdam– A study led by researchers at Lawson Health Research Institute (Lawson), London, Canada provides clinical validation of EpiSign, a molecular genomics test that diagnoses rare, heritable mainly neurodevelopmental conditions.
Developed at Lawson, the diagnostic test uses machine learning to analyze the EpiSign Knowledge Database. This database compiles information on rare genetic diseases using laboratory analyses of the epigenome from patients with suspected genetic abnormalities. The epigenome is a process that can change the expression of a gene without changing the gene sequence.
“In collaboration with the Amsterdam UMC and the Greenwood Genetic Center we used 211 blood samples to measure test performance and diagnostic yield in 207 subjects from two different cohorts,” explains Dr. Bekim Sadikovic, Lawson Scientist and Head of the Molecular Diagnostics Division at London Health Sciences Centre (LHSC). The two subgroups included the targeted cohort; subjects with previous ambiguous/inconclusive genetic findings, and the screening cohort; subjects with clinical findings consistent with hereditary neurodevelopmental syndromes and no previous conclusive genetic findings.
“Of the 207 subjects tested, 57 were positive for a diagnostic episignature including 48 in the targeted cohort, and 8 in the screening cohort. Only four remained inconclusive after EpiSign analysis,” says Dr. Sadikovic. “This gives us strong evidence for the clinical utility of EpiSign, as well as the ability to provide conclusive findings in the majority of subjects tested.”
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
Since June 2018, Amsterdam UMC (University Medical Centers; AMC and VUmc) represents the largest academic hospital in the Netherlands. AGDx is the genomic laboratory of Amsterdam UMC and we are developing the best genetic tests for patients, for disease prevention, disease diagnosis and treatment. AGDx performs at the top of international scientific research and we make medical breakthroughs available, as Amsterdam UMC is one of the leading international centers in the field of academic medicine. AGDx performs tests under government license. Better be safe than sorry: for the vast majority of our genetic panels, we garantee 100% coverage, plus CNV analyses. This coverage percentage of 100%, is called Quality A.
Due to new regulations, there are new prices for genetic testing. As you may have noticed, prices for some tests went up, other prices went down. The price of the test can be found in the catalog. Please contact us if you have questions about the price of a specific test. Special prices are available for large amounts of test requests and regular customers. We do our best to perform at competitive prices and turn-around times, however quality and academic test interpretation is our first priority. We are happy to share our knowledge and experience of clinical genetic testing with you. Info@amsterdamgenomedx.com.
The aim of AGDx is to provide medical specialists with clear genetic diagnostic reports. By special in-house designed targeted NGS panels, genomic analyses for obesity or dyslipidemia is accessible for a large group of healthcare professionals. We do not believe in “the more the better” with regard to the number of genes included in diagnostic panels. Not just a comprehensive list of genes, but selected genes, proven to be of clinical importance for diagnosis and/or treatment, are included in the panels.
By transferring the panels from NGS whole exome sequencing to NGS targeted sequencing, we can reach the sequence coverage >99,9% with an improved CNV analyses. Since we have many requests for these tests, we can now offer these two genepanels, dyslipidemia and obesity (obesitome), at a very competitive price. The targeted panel for obesity is available since April 2018. By launching these targeted gene panels, we set a new standard for genetic testing of obesity and dyslipidemia 2018.