Update and Extension of the Panel for Epilepsy and Brain Development Disorders

According to the latest clinical findings, we updated and expanded our Diagnostic Panel for Epilepsy and Brain Development Disorders. As part of the update, the composition and structural design of the panel have been revised to differentiate the clinical pictures covered and continue to increase their diagnostic sensitivity.

The following gene sets can now be requested separately:

  • Primary microcephaly and differential diagnoses (BRN-01).
  • Pontocerebellar hypoplasia (BRN-14)
  • Progressive myoclonus epilepsy (EPI-05)
  • Neuronal ceroid lipofuscinosis (EPI-06)

A lot of epilepsy and brain development disorders are caused by genetic defects. A precise diagnosis helps you identify disease associated risks and initiate appropriate preventive examinations. CeGaT’s Diagnostic Panel for Epilepsy and Brain Development Disorders includes 577 genes organized into 18 different gene sets. We interpret all genes associated with your patient’s phenotype. You can request any of our gene sets individually or in combination with other gene sets. To give you the highest diagnostic flexibility, you can also select an individual combination of genes.

The new Diagnostic Panel for Epilepsy and Brain Development Disorders is based on CeGaT ExomeXtra®, which we developed to generate the best sequencing data for genetic diagnostics. Since CeGaT ExomeXtra® covers all known pathogenic intronic and intergenic variants in addition to all protein-coding regions, it provides an excellent basis for genetic diagnostics.

We believe that all patients should receive the best possible diagnostics. Therefore, as standard in our panels, we screen for single nucleotide variants (SNVs) and copy number variants (CNVs), and check for mosaicisms. If necessary, we validate pathogenic deletions or duplications by MLPA or qPCR before issuing the report. The highest quality is our standard.

For further information on the panel, please get in touch with us at sales@cegat.de.

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Update and Extension of the Panel for Skin Diseases

As part of the continuous development of our diagnostic panels, we have updated and extended the Diagnostic Panel for Skin Diseases according to the latest medical findings. The hereditary skin diseases cutis laxa and hereditary angioedema are now separate gene sets and can be requested individually.

Genetic defects cause many dermatological diseases. A precise diagnosis helps you to identify risks associated with the disease and to initiate appropriate preventive examinations. CeGaT’s Diagnostic Panel for Skin Diseases includes 266 genes organized into 14 different gene sets. We interpret all genes associated with your patient’s phenotype. You can request any of our gene sets individually or in combination with other gene sets. To give you the highest diagnostic flexibility, you can also select an individual combination of genes.

The new Diagnostic Panel for Skin Diseases is based on CeGaT ExomeXtra®, which we developed to generate the best sequencing data for genetic diagnostics. Since CeGaT ExomeXtra® covers all known pathogenic intronic and intergenic variants in addition to all protein-coding regions, it provides an excellent basis for genetic diagnostics. In addition, deletions and duplications are detected.

We believe that all patients should receive the best possible diagnostics. Therefore, we screen for single nucleotide variants (SNVs) and copy number variants (CNVs) as standard in our panels and check for mosaicisms. If necessary, we validate pathogenic deletions or duplications by MLPA or qPCR before issuing the report. The highest quality is our standard.

The new panel can be requested here.

For further information on the panel, please contact us at sales@cegat.de.

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CeGaT Updates Panel for Immune Disorders

We have updated our diagnostic Panel for Immune Disorders according to the latest scientific standards. With this, we will be able to clarify even more cases of rare primary immune disorders in the future through molecular genetic methods.

In this new version, we have added genes from the interim update of the Expert Committee of the International Association of Immunology Societies1 (IUIS), which publishes a regular overview of monogenic immunodeficiencies. A large part of the genes presented had already been taken into account in our gene panel, while additional genes have been added to our gene sets that cover genetic disorders such as susceptibility to infection for certain pathogen classes. A total of 17 genes have been added to our Panel for Immune Disorders, which now comprises 339 genes.

Great scientific progress has been made within the last year in the field of autoinflammatory diseases and autoimmune diseases. For example, a recent study in the New England Journal of Medicine describes a somatic change in the UBA1 gene as the cause of a disease characterized by fever, sterile inflammation, and dysplastic bone marrow that starts during adulthood2. The UBA1 gene – together with five other genes – has been added to our gene set for autoinflammatory diseases as part of the update and will be considered in future cases with a corresponding indication.

Our updated analysis strategy also includes the RNA genes SNORA31 and RNU7-1, which are newly associated with susceptibility to herpes simplex encephalitis and type I interferonopathy3, 4. RNA genes are usually not examined in the context of classic exome enrichments. The Panel for Immune Disorders is based on the Exome Xtra enrichment. In addition to genes that may be associated with the patient’s disease, the analysis of ACMG genes and the pharmacogenetic profile can also be requested.

The updated Panel for Immune Disorders is available now. You can find detailed information about the panel here. For further information, please do not hesitate to contact us at sales@cegat.de.

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1 Tangye S. G. et al., The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee, J Clin Immunol, 2021; 41(3): 666–679, DOI: 10.1007/s10875-021-00980-1

2 Beck et al., Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease, N Engl J Med, 2020 Dec 31; 383(27):2628-2638, DOI: 10.1056/NEJMoa2026834

3 Lafaille et al., Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis, Nat Med, 2019, Dec;25(12):1873-1884, DOI: 10.1038/s41591-019-0672-3

4 Uggenti et al., cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing, Nat Genet, 2020,Dec;52(12):1364-1372, DOI: 10.1038/s41588-020-00737-3

CeGaT Expands the Data Basis of All Diagnostic Panels

Based on our expert-developed, in-house exome enrichment “CeGaT Exome Xtra”, we have expanded all diagnostic panels’ data and thus offer the latest innovation as standard. Since CeGaT’s Exome Xtra enrichment covers all known intronic and intergenic pathogenic variants as well as all protein-coding regions, it provides the most extensive data basis for achieving the best genetic diagnostic results. The evaluation may be extended flexibly by additional gene sets, thus increasing the solving rate even for patients with complex phenotypes.

As pioneers in the field of genetic diagnostics, CeGaT established gene panels in clinical genetic diagnostics more than a decade ago. Our diagnostic panels have been continuously enhanced using the latest scientific findings in collaboration with experts from the clinical sector. CeGaT’s latest innovation combines this long-standing experience in the field of genetic diagnostics in a comprehensive product. CeGaT Exome Xtra covers all known disease-causing regions of the entire genome and thus provides the best data basis for analyzing our diagnostic panels. For a detailed comparison, please consult our Tech Note “The Best Possible Exome.”

For CeGaT’s diagnostic panels, this means:

  • Exome-based enrichment using CeGaT Exome Xtra
  • Coverage of disease-relevant intronic variants has increased significantly
  • New genes can be integrated even faster
  • Single nucleotide variants (SNVs), small insertions and deletions (INDELs), and copy number variants (CNVs) are interpreted
  • Mosaicisms can be identified
  • Complex phenotypes can be ideally considered due to highly flexible evaluation
  • The possibility to extend the medical findings with pharmacogenetic information on individual drug efficacy is given
  • The extension of medical findings with ACMG genes can be requested

With CeGaT Exome Xtra as the data basis for panel diagnostics, patients and treating physicians benefit from a unique approach that opens up a new dimension in genetic diagnostics.

We are pleased to provide you with the most comprehensive diagnostics, based on latest research findings, as a new standard. To ensure our high-quality standards and flexibility, we perform all steps in-house.

For further information, please contact us at sales@cegat.de.

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Update of the Diagnostic Panel for Neuromuscular Diseases

As part of the regular diagnostic panel updates, CeGaT has updated and expanded the Panel for Neuromuscular Diseases (NMD) following the latest scientific data. 33 genes have been added: They increase the probability of identifying the causative variant and cover additional clinical pictures.

One of the new genes added is the sorbitol dehydrogenase gene (SORD). In the recent publication by Cortese and colleagues1, it was shown that variants in this gene are the most common identified cause of autosomal recessive inherited neuropathy. Therefore, the inclusion of SORD in the panel allows making significantly more diagnoses, which goes along with new therapeutic possibilities for the treating physicians

After the update, the panel’s gene set for arthrogryposis  (NMD14) contains 14 additional genes and now also covers the two clinical pictures of fetal akinesia and congenital contracture syndromes. Arthrogryposis is the term used to describe the symptoms of congenital joint contractures in at least two regions of the body that occur in a variety of often severe clinical pictures.

All CeGaT panels are examined with CeGaT’s large panel approach. We always sequence all genes of a panel and evaluate the requested gene set. If necessary, we can quickly extend the evaluation to other gene sets. This gives you access to flexible and cost-efficient differential diagnostics. In addition, we offer a screening of all differential diagnostic relevant genes of the panel for variants of ACMG classes 4 and 5. CeGaT’s panel diagnostics also include the free of charge regular re-evaluation of variants of uncertain clinical significance (VUS) to increase the diagnostic yield further.

We are convinced that all patients should receive the best possible diagnostics. For this reason, our panels routinely examine single nucleotide variation (SNVs) and copy number variants (CNVs) and check for mosaicism. If necessary, we validate pathogenic deletions or duplications using MLPA or qPCR before reporting. The highest quality is our standard.

For further information on the panel, please contact us at sales@cegat.com. The new panel can be ordered here.

1 Cortese, A., Zhu, Y., Rebelo, A.P. et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet 52, 473–481 (2020). https://doi.org/10.1038/s41588-020-0615-4