Overview – What is gene panel sequencing?
Targeted gene panels apply next generation sequencing (NGS) technology to investigate the mutation status of multiple genomic regions of interest simultaneously. The targeted panels include specific regions of the genome that are associated with a disease or phenotype of interest. Gene panels can help researchers discover point mutations, inserts and deletions, copy number variats (CNV) and translocations that could be missed with traditional sequencing techniques.
Targeted gene panels can either be pre-designed or custom-designed. The most common pre-designed gene panels contain genes of clinical relevance linked to cancer, Mendelian diseases, cardiac disorders and neurodegenerative conditions. DNA from a variety of sample materials, including formalin-fixed paraffin-embedded (FFPE), can be utilised with this approach.
By focusing only on key regions of interest, targeted gene panels help reduce sequencing time and simplify data analysis.
Applications – What are the advantages of targeted gene panels?
- Cost-effective investigations for clinical studies on Mendelian diseases and cancer
- Deep coverage of genes and genomic regions of interest
- Identification of rare variants at low allele frequencies
Workflow – Gene panel sequencing methods & technologies
Different methods for the establishment of gene panels are available. Often, target enrichment occurs via solution hybridisation, where probes pull down the genomic regions that they are specific to. Alternatively, enrichment via PCR can be used, where each targeted region is amplified via a distinct pair of primers in a multiplexed reaction.
Other methods for target enrichment include hybridisation microarrays and alternative forms of PCR multiplexing.
Depending on the utilised method and project requirements, thousands of DNA targets can be sequenced simultaneously with next generation sequencing technologies.
Scientific expertise: Gene panel sequencing
Eurofins Genomics is an expert at targeted sequencing, including sequencing of multigene panels. The company has years of experience, particularly with cancer panels. Eurofins Genomics has designed and sequenced cancer panels with hundreds of known cancer genes that contain clinically relevant mutations. Eurofins Genomics also offer expertise in the establishment of custom gene panels for novel organisms or for targeting specific cellular processes outside of the scope of predesigned panels.
Products related to gene panel sequencing
Are you aiming to investigate cancer? Then try the GATCLiquid Oncoexome, the comprehensive profile of all mutations present in the exome to explore genetic variation across all protein-coding regions of the genome. A wide variety of starting materials can be used, including FFPE samples.
Our product for ultra-sensitive detection of genomic aberrations uses droplet digital PCR (ddPCR) and can be used for targeting a single or a few important mutations in a particular sample.
Alternatively, the entire genome of an organism of interest can be efficiently captured with our established whole-genome sequencing (WGS) services INVIEW De Novo Genome and INVIEW Resequencing.
For investigations that need only a few targeted genes from a small number of samples, use our ultra-fast Sanger sequencing services such as the Mix2Seq service for your advantage.