The panel for fertility covers 141 genes. All of these genes are sequenced simultaneously. We interpret all genes associated with the patient’s phenotype, referred to as a gene set. In Addition, 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. For mtDNA, phenotype associated hotspots are part of the analysis. Full analysis of mtDNA available upon request.
This diagnostic panel covers over 99,8% of the target region at a minimum of 30x.
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.
Material, TAT & Costs
1-2 ml EDTA blood or 1-2 µg genomic DNA. Other sample material possible upon request. Please contact us for details.
Order form with declaration of consent according to German Genetic Diagnosis Act (GenDG)
Turnaround time: 4-6 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.