Group of medics discusses contents on a screen

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.

Find Out More!