We look forward to seeing you in Gothenburg at ESHG 2026. From June 13 to 15, you can meet our team at booth 506 and discuss your topics directly with our experts. Conferences are busy, so secure your time with our team in advance and book a meeting that fits your schedule using our appointment request form.
CeGaT brings together two areas of expertise: Genetic Diagnostics and Research & Pharma Solutions. We support clinical decision-making as well as research and biotech projects with high-quality genomic data, robust workflows, and dedicated scientific support.
Meet the Expert and get direct insights into our work. At our booth, we offer sessions on exome and tumor diagnostics and show how CeGaT supports doctors and patients. You can also meet our Research & Pharma Solutions team and discuss your project and requirements in detail.
In addition, Dr. Alexander Pepler, will present a poster titled “An unusually mild neurological phenotype and possible renal association in two male patients with a frameshift in an alternatively spliced region of CASK.” – find out more!
Meet Us at ESHG 2026 in Gothenburg
Dr. Alexander Pepler
Research Associate, Exome Diagnostics
Dr. Björn Schulte
Management Germline Diagnostics and R&D
Gözdenur Schmelzer
Product Management Diagnostics
Dr. Kirill Shur
Business Development Manager EE&CA
Marc Detmers
Head of Marketing
Dr. Martin Schulze
Management Tumor Diagnostics and R&D
Dr. Patrick Walter
Head of RPS Sales
Dr. Stefan Griesbach
Director Business Development Diagnostics
Dr. Zhen Zeng-Hannukainen
Business Manager Nordics
Poster by Dr. Alexander Pepler
Alexander Pepler presents a poster titled “An unusually mild neurological phenotype and possible renal association in two male patients with a frameshift in an alternatively spliced region of CASK.”
Pathogenic variants in the CASK gene are typically associated with a variable neurodevelopmental delay with or without congenital nystagmus. In this work, two male patients with a frameshift variant in an alternatively spliced region show an extremely mild neurological phenotype: congenital nystagmus but no neurodevelopmental delay and, unusually, end-stage renal disease.
These findings highlight the clinical variability of CASK variants and point to potential isoform-specific effects, raising new questions about the role of CASK beyond the central nervous system.
Visit our poster during the Poster Viewing session (Group B) to learn more.
Meet the Expert – Sessions at Our Booth
Dr. Björn Schulte Explains the Advantages of Our Rare Disease Diagnostics
With ExomeXtra®, CeGaT combines the strengths of exome sequencing, genome sequencing, and array CGH in a single test, enabling the detection of up to 20% more clinically relevant variants compared to standard exome sequencing. This enhanced detection capability is enabled by our proprietary enrichment, which covers more than 46,000 disease-associated intronic and intergenic variants, incorporates a genome-wide backbone for array-like CNV detection, includes clinically relevant non-coding regions, and captures the complete mitochondrial genome. In combination with a high average sequencing depth of 115x, ExomeXtra® enables highly sensitive and comprehensive variant detection across coding and selected non-coding regions, including the reliable identification of low-level mosaic variants.
Learn more about the advantages of our exome diagnostics from Dr. Björn Schulte.
Dr. Martin Schulze Provides Insights into Our Tumor Diagnostics
Dr. Martin Schulze explains key aspects of molecular tumor diagnostics and the value of comprehensive somatic analyses. He highlights the importance of tumor-normal comparison and explains the benefit of determining biomarkers such as MSI, TMB, and HRD from sequencing data. The possibilities of RNA analysis for fusion detection and gene expression are also discussed, as is the use of liquid biopsy-based MRD tests in monitoring disease progression.
Take the opportunity to discuss your questions with him.
We Make Time for You
Request an appointment for a personal consultation with our experts at ESHG 2026 now.
