Frequently Asked Questions

Find answers to frequently asked questions about our exome diagnostics

Below you fill answers to the most frequently asked questions about our exome diagnostics. In case your inquiry is not covered in here, you would like to receive additional details and/or discuss the best diagnostic approach for your patients, please do not hesitate to contact us by email at diagnostic-support@cegat.com. We are happy to support you further!

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Questions Regarding Samples

Our recommendation is to provide 1–2 ml EDTA blood. We are also able to handle a variety of tissues like saliva, buccal swabs, or isolated DNA. We are happy to assist you with alternative materials. Please contact us at diagnostic-support@cegat.com.

CeGaT provides sample collection boxes upon request. These boxes can be used for transport and can be requested free of charge by mail or phone. Most samples can be shipped at room temperature from all over the world.

Questions Regarding Ordering/Process

Our turnaround time is approximately 2–3 weeks after sample receipt at the headquarters in Tübingen, Germany. For prenatal cases or other medical urgencies (e. g. ICU), we always prioritize the complete process. This service is free of charge.

In accordance with the German Genetic Diagnostic Act, a patient needs to obtain genetic counseling before and after genetic testing. Therefore, it is mandatory that the patient’s physician orders a genetic test at CeGaT. After data evaluation, the medical report is sent to the treating physician, as we must ensure that the patient receives appropriate genetic counseling.

Yes, of course. We are happy to support you with any questions  you may have regarding your patient. This may include recommendations for the most appropriate genetic tests or help with the interpretation and implications of our medical report. Please contact us anytime at diagnostic-support@cegat.com.

Questions Regarding Exome Diagnostics

Classical trio exome diagnostics provides the most promising results when both unaffected parents are included in the analysis. Nevertheless, we have also established a reliable exome pipeline, far cases where one parent is unavailable or similarly affected as the index. Inclusion of further family members is also possible. If you are unsure which approach is most suitable for your patient, please contact us at diagnostic-support@cegat.com.

Yes, by considering reduced penetrance, variable expressivity, and imprinting effects, we are able to solve cases that cannot be solved by classical trio analysis.

Questions Regarding Technical Aspects

ExomeXtra® outperforms WGS in several features in current diagnostics. The lower coverage of WGS does not permit reliable diagnosis. ExomeXtra® also includes all known pathogenic and likely pathogenic non-coding regions. Please find detailed technical information in our Tech Note.

Yes, our CNV analysis allows us to identify single exon deletions with a sensitivity of > 81%, larger deletions of three or more exons are detected with > 96% sensitivity. We always automatically include CNV analysis in all our NGS analyses, also comprising SNV/CNV combinations. This service is free of charge.

We always include mitochondrial DNA as part of our exome enrichment. Thus, all mitochondrial genes are sequenced. The analysis of mitochondrial genes is based on the clinical description of the patient. For prenatal cases, the analysis of mtDNA is always included to determine potential metabolic disorders.

Yes. Our data and analysis cover all clinically relevant, known pathogenic and likely pathogenic variants, such as non-coding variants in the flanking regions, deep intronic, and intergenic variants.

General Questions

ExomeXtra® provides the most comprehensive genetic diagnostics. If a case could not be solved, CeGaT offers to further assist in a scientific context, for example, by calling structural variants based on whole genome sequencing.

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Diagnostic Support

We will assist you in selecting the diagnostic strategy – for each patient.

Diagnostic support team of CeGaT