New Exome Diagnostics: ExomeFocus – Cost-Effective and Fast Results

CeGaT has adapted its in-house exome diagnostics and revised them according to the latest clinical findings. Our ExomeXtra® covers not only all coding regions but, in the third version, also all >22,000 non-coding variants classified as pathogenic or probable pathogenic in the HGMD database. With the new ExomeFocus, we offer a fast, comprehensive, and inexpensive exome diagnostic that can be used well in an inpatient setting.

We see a high clinical need also for inpatients (pediatrics, neonatology, metabolic centers) to have access to a rapid diagnosis (<12 days) when a genetic disease is suspected. Two years ago, we were able to open up a new dimension in exome diagnostics thanks to our in-house exome enrichment, our optimized bioinformatics software, and our highly skilled diagnostic evaluation experts. With CeGaT ExomeXtra®, your patients benefit from a unique approach that combines the advantages of Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) while circumventing their weaknesses. In doing so, CeGaT ExomeXtra® achieves better results than commercially available WES and WGS and dramatically increases diagnostic yield.

Update: CeGaT ExomeXtra® – newly added variants and optimized coverage enable a further increase in sensitivity

The third version of CeGaT ExomeXtra® includes all variants currently classified as pathogenic or likely pathogenic, with over 22,000 non-coding variants of HGMD and nearly 15,000 variants listed in ClinVar. In addition, we improved the uniformity of coverage further in the design process, thus increasing clinical sensitivity.

This makes CeGaT ExomeXtra® the most effective genetic test for patients with complex, non-specific, and rare diseases. Our proprietary exome enrichment covers not only all protein-coding regions but also all known pathogenic intronic and intergenic variants, providing the most comprehensive database for the most informed genetic diagnosis.

Click here for further information on CeGaT ExomeXtra®.

New: CeGaT ExomeFocus – focused analysis for cost-efficient results

Based on prioritized high-impact variants, CeGaT’s ExomeFocus identifies likely pathogenic and pathogenic variants (ACMG classes 4 and 5) in the shortest possible time. This focused analysis enables you to obtain cost-effective results in as little as two to three weeks and less than 12 days in very urgent cases. ExomeFocus can also be used in a modular fashion or expanded to a trio exome analysis at any time.

Your advantages at a glance:

  • Precise, cost-efficient, and rapid results within 2-3 weeks
  • Expandable at any time
  • Optional ACMG interpretation, PGX reporting, HLA typing possible

More information about CeGaT ExomeFocus can be found here.

Benefit from our unique approach to exome sequencing and increase the diagnostic yield for your patients.

We look forward to answering your questions and advising you. Please get in touch with us at diagnostic@cegat.com.

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Liquid Biopsies – Utilize the Potential of cfDNA with CeGaT’s New NGS-based Product Portfolio

CeGaT expands its Liquid Biopsy product portfolio with two UMI (Unique Molecular Identifier) based NGS analyses. Our broad Liquid Biopsy product portfolio offers a suitable approach for every clinical or research question. CeGaT`s LB Focus panel detects variants known to be driver mutations in 36 genes relevant to a broad spectrum of tumor entities. LB Exploratory includes the analysis of 523 genes using Illumina’s TSO500 ctDNA assay. Both products allow for highly sensitive detection of variants present in the circulating tumor DNA (ctDNA), with a sensitivity of up to 0.25% and 0.5% NAF (novel allele frequency), respectively.

The minimally invasive analysis of a tumor’s genetic profile is called liquid biopsy. The blood sample collection required for this purpose can be performed in an uncomplicated and repeatable manner. Furthermore, circulating cell-free DNA (cfDNA) has a very short half-life and, consequently, always reflects the current state of the disease. Liquid biopsies thus present an ideal way of complementing or even replacing tissue-based molecular genetic tumor diagnostics.

There are various feasible applications for the clinical use of liquid biopsies:

  • Monitoring treatment response,
  • Disease monitoring,
  • Detection of minimal residual disease after surgery,
  • Patient stratification,
  • Early detection and profiling of resistance to therapy.

The broad Liquid Biopsy product portfolio allows CeGaT to support your project optimally, independent of your clinical or research question. Benefit from the capabilities of our Liquid Biopsy product portfolio:

  • LB Target: Specific tumor variants can be tracked during therapy using digital droplet PCR (ddPCR).
  • LB Focus: The LB Focus panel allows for highly sensitive monitoring and follow-up of cancer patients during and after therapy.
  • LB Exploratory: enables comprehensive genomic profiling of the tumor and, moreover, the evaluation of key immuno-oncology biomarkers like TMB (Tumor Mutational Burden).
  • LB Flex: Using LB Flex for cfDNA analysis, you have the possibility to use a whole-exome approach or a CeGaT panel of choice.

We would be happy to discuss all options and support you in planning your clinical trial or research project. Your project will benefit from our long-standing expertise in the diagnostic field and, thus, strict quality standards, as well as practical knowledge.

For further information, please do not hesitate to contact us at rps@cegat.com.

More About Our Liquid Biopsy Product Portfolio

Watch Our Free Webinar with Hamilton Robotics: “Automating NGS Workflows for Precision Medicine-Oncology.”

The concept of precision medicine has gained a lot of attention within the last years, especially regarding cancer patients’ treatment. NGS can help to further advance the field and make a real difference for researchers, physicians, and ultimately, for patients.

The focus of this webinar is CeGaT’s experience in automating NGS workflows for personalized medicine in the field of oncology. Learn more about our motivation and approach to automating our library preparation workflows and get to know the latest trends and developments in the field of precision medicine. Using examples from practice, we will present the importance and opportunities of NGS in this context. Find out more in our webinar with Hamilton Robotics on May 6, 2021.

Speakers & content:

Dr. Elisabeth Maritschnegg, Product Manager Oncology at CeGaT GmbH

Dr. Gabriela Boza-Moran, Scientific Content Manager at Hamilton Robotics

Dr. Elisabeth Maritschnegg will describe the drivers behind the need for automating CeGaT’s NGS workflows and the benefits of their current automated systems. Moreover, she will illustrate the benefits of CeGaT’s genomic services through two case studies.

At the conclusion of the webinar, Dr. Gabriela Boza-Moran will present some of the commercial solutions that Hamilton Robotics can provide to customers using NGS in Precision Medicine-Oncology studies.

Watch our free webinar

If you have any questions, please do not hesitate to contact us at rps@cegat.com.

We would be happy to discuss all options for your clinical trial or research project. More information about the Research and Pharma Solutions portfolio can be found here.

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