Study: Prenatal Trio Exome Sequencing Clarifies Ultrasound Abnormalities with a Solution Rate of 38%

Prenatal trio exome analysis is a highly sensitive method for clarifying fetal ultrasound abnormalities. The high relevance of this technology for prenatal diagnostics was demonstrated by our study of more than 500 cases. A genetic cause for the abnormal fetal ultrasound could be identified in 38% of all prenatal trio exome analyses. Even before birth […]

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.

More About Our Diagnostic Panel

Watch Our Free Webinar and Learn How We Can Help You Solve Patient Cases with CeGaT Exome Xtra

Many patients show nonspecific and complex clinical pictures. Diagnosis is difficult and means years of uncertainty for those affected. Genetic diagnostics helps you to end your patients’ diagnostic odyssey.

Our innovative approach incorporates all genetic diagnostics, realizes maximum yield, and provides a detailed understanding of a disease’s cause and pathomechanisms. Learn how our CeGaT Exome Xtra can help you solve patient cases and find the best therapeutic option by watching the recording of our free webinar from March 24, 2021.

CeGaT Exome Xtra combines the benefits of whole exome sequencing (WES) and whole genome sequencing (WGS)

Sequencing with CeGaT Exome Xtra covers all medically relevant regions in the entire genome and considers factors that are often overlooked in regular genetic testing.  The inclusion of intronic variants sets CeGaT Exome Xtra apart from commercially available WES and WGS and solves even the most complex patient cases. Regular updates ensure that CeGaT Exome Xtra is always in line with the latest genetics research. For more information on CeGaT Exome Xtra, please click here.

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

Free Rapid Antigen Tests: CeGaT Extends Opening Hours to Support the Initiative “Reopening of Tübingen”

At CeGaT’s corona testing site in Tübingen, free rapid antigen tests will be offered from Monday, March 3, 2021. CeGaT thus supports the city’s initiative to ” Reopening of Tübingen”. The rapid antigen test we use provides reliable results in just 15 minutes.

Those who would like to take a free test can come to CeGaT’s corona testing site at Paul-Ehrlich-Str. 23, Tübingen, without making an appointment. Medical professionals will take the sample. The rapid antigen test detects both symptomatic and asymptomatic corona infections and can be performed at the testing site at the following times:

  • Monday through Friday from 09.30 a.m. to 5.00 p.m., and Saturdays from 9.00 a.m. to 1.00 p.m.. For more information on the testing sites, click here.

The nasopharyngeal swab required for the rapid antigen test is performed by our medical staff on-site. The result is available within 15 minutes. A certificate is issued for the result of the rapid test.

Initiative for the “Reopening of Tübingen”

CeGaT supports the city’s initiative for a “Reopening of Tübingen” with extended opening hours of the testing site at Paul-Ehrlich-Strasse. Further testing sites, with opening hours from Mon-Fri 9.30 a.m. to 7.00 p.m., Sat 9.30 a.m. to 4.00 p.m., are planned in the downtown area. Tübingen’s goal is to open stores and allow people to enter with a (negative) rapid antigen test from the same day.

CeGaT completes coronavirus test portfolio

The rapid antigen test completes our comprehensive coronavirus test portfolio to understand and manage the pandemic: The PCR-based laboratory test can detect active infections with utmost certainty. The antibody test is not only used to detect past infections but also measures vaccination effectiveness in vaccinated individuals. Genome sequencing of positive samples identifies viral variants, providing information on how the virus evolves and spreads. Further information on our test portfolio can be found here.

If you have any further questions, please do not hesitate to contact us by e-mail at corona@cegat.de or by phone at +49 7071 56544-20 (we are available on weekdays from 9.00 a.m. to 4.00 p.m.).