Laboratory Genotyping
We specialise in developing and validating genotyping assays as well as undertaking the analysis of clinical samples.
A number of targeted genotyping panels are available for oncology studies:
- AmpliSeq for Illumina Comprehensive Cancer Panel – targeted sequencing covering all exons of 409 cancer associated genes for the detection of Copy Number Variants (CNVs), Insertions-Deletions (indels), Single Nucleotide Polymorphisms (SNPs) and Somatic Variants. Compatible with DNA from FFPE samples.
- AmpliSeq for Illumina Childhood Cancer Panel – targeted sequencing of 203 genes associated with childhood cancers for the detection of hotspots, Single Nucleotide Variants (SNVs), indels, CNVs and gene fusions from RNA or DNA, including FFPE samples.
- AmpliSeq for Illumina Comprehensive Panel v3 – targeted sequencing of 161 unique cancer associated genes including kinase domains and DNA repair genes for the detection of SNPs, CNVs, indels and gene fusions from RNA or DNA including FFPE samples.
Data Analysis
At Epistem, we understand that analysing Next Generation Sequencing (NGS) data is just as critical as generating it. That is why we offer dedicated bioinformatic analysis services tailored to your specific research needs.
Analysis may include demultiplexing of samples and raw data QC, genome alignment and variant calling. Variant (SNP, INDEL) statistics, filtering and annotation and disease associations.
Our commitment to quality and accuracy, combined with our state-of-the-art technology, enables us to deliver reliable and informative results that can drive your research forward. Contact us today to learn more about our NGS services and how we can help you achieve your research goals.
Genotyping services include:
- SNP analysis by NGS or microarrays
- Quantitative or qualitative analysis by RT-PCR