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Copy number variations (CNVs)
Can I talk with an expert from CeGaT before or after the report in case I have questions?
Yes, of course. We are happy to support you with any ques.tions related to your patient. This may include recommen.dations of the most suitable genetic testing or help with the interpretation and consequences of our medical report. Please contact us at firstname.lastname@example.org anytime.
Which tissues can you process?
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 email@example.com.
How long does the test take?
Our turnaround time is approximately 4-6 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 and deliver the medical report within 2-3 weeks. This service is free of charge.
How can I send the sample to you?
CeGaT provides sample collection boxes upon request. These boxes can be used for transport and can be reques.ted free of charge by mail or phone. Most samples can be shipped at room temperature from all over the world.
One of the parents is not available for trio exome diagnostics. Can I send another family member instead?
Classical trio exome diagnostics provides the most promising results if both unaffected parents are included in the analysis. Nevertheless, we also established a reliable exome pipeline, far cases where one parent is unavailable or similarly affected as the index. The inclusion of further family members is also possible. If you are unsure which approach is the most suitable for your patient, please contact us at firstname.lastname@example.org.
Who can order the test and receive the medical report?
In accordance with the German Genetic Diagnostic Act, a patient needs to obtain genetic counseling before and after genetic testing. Thus, it is mandatory that the patient’s physician orders a genetic test at CeGaT. After data evaluation, the medical report will be sent to the treating physician, as we need like to ensure that the patient receives proper genetic counseling.
Is whole genome sequencing a more comprehensive approach for patients with a complex phenotype?
CeGaT Exome Xtra outperforms WGS in current diagnostic use in several features. The lower coverage of WGS does not permit reliable diagnostics. CeGaT Exome Xtra also includes all known pathogenic and likely pathogenic non-coding regions. Please find detailed technical information at bbrauncegat.com/betterthanWGS.
Can CeGaT Exome Xtra detect deletions/duplications?
Yes, our CNV analysis allows us to identify single exon deletions with a sensitivity of >81%, larger deletions of three or more exons will be 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.
Is the analysis of mitochondrial DNA included?
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.
Are you able to detect intronic variants?
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.
Can a trio be solved even if no variant fits the inheritance pattern?
Yes, by considering reduced penetrance, variable expressivity, and imprinting effects, we are able to solve cases that are unsolved by classical trio analysis.
What if a case cannot be solved?
CeGaT Exome Xtra 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.