Analysis of all known genes associated with hereditary tumor syndromes.
Panel diagnostics: The panel for genetic tumor syndromes covers 127 genes. All these genes are sequenced simultaneously, as part of the CeGaT ExomeXtra®. We interpret all genes associated with the patient’s phenotype, referred to as a gene set. Additionally, mtDNA is part of the enrichment.
Maximize diagnostic options: Each gene set can be requested individually or in combination with other gene sets. It’s also possible to select a custom combination of genes (Custom Panel). Click here to view our gene sets.
Extensive medical reporting: The interpretation includes single nucleotide variants (SNVs), small insertions and deletions (INDELs), and copy number variants (CNVs) of single and/or multiple exons. For every gene depicted in the gene sets, we analyse all coding regions as well as all known disease coding intronic variants.
This diagnostic panel has a sensitivity of >99.8% for the heterozygous variant; the average coverage is >150x.
General Information
- It is possible to select one or multiple predefined gene sets.
- In addition to the comprehensive analysis of the genes of the requested gene set, we can extend the analysis to all genes of the diagnostic panel on request. We report pathogenic and probably pathogenic variants (ACMG classes 4 and 5), which may be associated with the indication of the person seeking advice.
- This panel is based on the CeGaT ExomeXtra® enrichment. It is possible to expand the analysis to phenotypically relevant gene sets from other CeGaT Panels or individual genes, without additional sequencing. If you are looking for a custom panel, please contact us. We support you with the ordering process.
- In addition to the primary diagnostic order, assessing the ACMG genes and creating a pharmacogenetic profile can also be ordered.
Material, Turnaround Time and Costs
- 1-2 ml EDTA blood or 1-2 µg genomic DNA
- Order form with declaration of consent according to German Genetic Diagnosis Act (GenDG)
- Turnaround time: less than 4 weeks
The prices for our human genetic diagnostics depend on the size of the selected Diagnostic Panel and the selected gene sets. All prices include sequencing, bioinformatic analysis, and issuing of a medical report by our team of experts in human genetic diagnostics.
Method
The enrichment of the coding regions and the adjacent intronic regions is performed using a in-solution hybridization technology. The selection of the targeted regions and the design of the enrichment baits is performed in-house.
High throughput sequencing is performed on Illumina platforms.
Bioinformatic processing of the data is achieved using an in-house computer cluster.
Following data processing, our team of scientists and specialists in human genetics analyze the data and issue a medical report.
Process for Diagnostics
Test selection
We are happy to assist in choosing the suitable diagnostic strategy
Sampling & consultation
The patient receives genetic counseling and signs the order and consent form. Patient samples are retrieved and, together with the order form, send to CeGaT.
Analysis
CeGaT performs the requested analysis and issues the medical report.
Genetic consultation
Results are discussed with the patient.
Gene sets – Tumor Syndromes
Colorectal Cancer
Gynecologic Cancer
Gastrointestinal Neoplasia
Endocrine Tumors
Pancreatic Cancer
Tumors of the Central Nervous System
Urological Tumors
Skin Cancers
Lung Cancer
Solid Pediatric Tumors
Other Familial Tumor Diseases
Gene Directory
Knowledge
Contact Us
Dedicated Support
Our dedicated support assists you in choosing the most appropriate diagnostic test for your patients.
