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Epigenetic test

Now available from June 2019 for clinical diagnosis: a new diagnostic test focused on disease-specific epigenetic signatures: Episign. EpiSign is performed on a peripheral blood sample and can analyze DNA methylation patterns of the genome to establish a diagnosis or help resolve variants of uncertain significance (VUS). Episign is performed as a collaboration of Amsterdam UMC, the Netherlands and London Health Sciences, Canada.
To date, combined efforts have identified unique methylation patterns, known as epigenetic signatures, for 21 genetic disorders including CHARGE syndrome, Cornelia de Lange syndrome, Down syndrome, Kabuki syndrome, Sotos syndrome, Williams syndrome, ATRX syndrome, autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCADN), BAFopathies (Coffin-Siris syndrome , Nicolaides-Baraitser syndrome, Chr6q25del), Claes-Jensen syndrome, Genitopatellar syndrome, Floating Harbor syndrome, ADNP-related syndrome/Hellsmoortel-VanDerAa syndrome, and Chr7q11.23dup.
“Current diagnostic technologies such as microarray and whole exome sequencing are not able to assess non-coding and more complex variants, and cannot provide information on epigenetic changes,” said Bekim Sadikovic, PhD, DABMG FACMG, Division Head, Molecular Diagnostics, LHSC; and Associate Professor, PaLM, Western University, who leads the epigenetic signature research. “This technology provides a new level of analysis beyond the genome.”


This test may be a useful screening tool for patients with developmental delay, or with one or more overlapping features suggestive of one of the represented epigenetic signature conditions or imprinting disorders.



Methylation array



Methylation abnormalties detected using this test may require additional targeted testing to confirm and further
characterize the underlying genomic abnormality. This test will not detect females with Fragile X (FMR1) expansions.


Specimen Requirements

4-6 ml of peripheral blood collected in an EDTA (lavender top) tube is the required specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA or banked is also accepted for this test given the original specimen was whole blood collected in an EDTA tube.


Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.



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The Expert Consensus Panel recommends Familial Hypercholesterolemia genetic testing

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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Introducing Amsterdam UMC

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.

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New standard for obesity and dyslipidemia

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.