Targeted Sequencing: Unveiling Genetic Insights

Targeted sequencing, also known as gene panel sequencing, utilises NGS sequencing technology to selectively sequence a subset of genes or regions within the genome. This approach offers several advantages over broader sequencing methods, such as whole-genome sequencing. Targeted sequencing enhances cost-efficiency by narrowing down the scope to regions, enabling researchers to allocate their resources strategically towards areas that are most pertinent to their phenotype of interest. Additionally, it enhances the detection of rare variants that other sequencing approaches might miss, enabling higher coverage.

Epistem’s suite of targeted sequencing panels covers a wide range of disease areas, including solid cancers, haematologic malignancies, childhood cancer, immune responses, and T cell receptor analysis.

Some of the key panels and their applications:

The Cancer Hotspot Panel:

This panel detects somatic mutations across hotspot regions of 50 genes associated with various cancers. It offers analytically sensitive mutation detection with as little as 1 ng of high-quality DNA or DNA from formalin-fixed, paraffin-embedded (FFPE) tissues. This panel facilitates precise mutation analysis in lung, colon, breast, ovarian, melanoma, and prostate cancers.

The Focus Panel:

This panel enables biomarker analysis in both DNA and RNA concurrently. It provides high analytical sensitivity for mutation detection in 52 genes relevant to solid tumours, including lung, colon, breast, ovarian, melanoma, and prostate cancers. The Focus Panel allows quick and accurate assessment of genomic variation, making it valuable for translational and clinical research studies.

The BRCA Panel:

This panel focusses on the BRCA1 and BRCA2 genes, which have an association with an increased risk of breast and ovarian cancers. It detects somatic and germline mutations across all exonic regions and flanking intronic sequences. Understanding the BRCA status within a tumour is crucial for researchers investigating potential therapies.

The Myeloid Panel:

The myeloid panel enables the study of biomarkers associated with haematologic malignancies. It enables the analysis of DNA and RNA from blood and bone marrow samples in a single assay. The panel covers 40 DNA genes, 29 fusion driver genes, and 5 gene expression levels related to major myeloid disorders, including acute myeloid leukaemia (AML), myeloid dysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), and more.

The Childhood Cancer Panel:

Our panel facilitates the genomic profiling of variants associated with childhood and young adult cancer types. With as little as 10 ng of DNA or RNA, it enables the assessment of cancer-related genetic variations in 203 genes across various sample types, including blood, bone marrow, and FFPE tissues. The Childhood Cancer Panel empowers researchers to unlock a wealth of genomic information to better understand and develop treatments for paediatric cancers.

The Immune Response Panel:

Understanding the expression of cancer biomarkers is crucial for predicting the success of immunotherapy treatments. This panel assesses the expression of 395 genes involved in tumour-immune system interactions. With a low input requirement of 10 ng RNA, this panel enables the detection of biomarkers associated with leukocyte subsets, antigen presentation, checkpoint pathways, and tumour progression.

The Immune Repertoire Plus, TCR beta Panel:

This panel measures T-cell diversity and clonal expansion by sequencing TCR beta chain rearrangements. It provides valuable insights into immune function, autoimmune diseases, and immune-mediated adverse effects. RNA extracted from whole blood, fresh/frozen tissue, or fluorescence-activated cell sorting (FACS)-sorted cells generates libraries.

Our GCLP-accredited laboratory supports all our targeted sequencing services, ensuring the highest quality standards for your research. In addition to targeted sequencing, Epistem also offers gene expression and DNA genotyping analytical services, utilising proprietary techniques such as plucked hair biomarker analysis and laser capture microdissection.

Choose Epistem to be your trusted partner. Our targeted sequencing panels, combined with state-of-the-art technology and expert scientific support, can complement your own team and enable a more efficient use of resources. By focusing on specific genes or genomic regions, workflows can be streamlined, resources optimised, and R&D pipelines accelerated.

Contact Epistem today to explore how our targeted sequencing services can propel your research forward.