Reliable somatic copy number variation detection for chronic lymphocytic leukaemia
Oxford Gene Technology (OGT), a Sysmex Group company, has launched its SureSeq CLL + CNV Panel — the company’s latest high-quality, next-generation sequencing (NGS) offering for research into chronic lymphocytic leukaemia (CLL). The SureSeq CLL + CNV Panel fulfils the desire for reliable copy number variation (CNV) detection by NGS, including trisomy 12 and loss of heterozygosity (LOH), as well as somatic variants, even at low allele frequency. The comprehensive panel covers all the most up-to-date, evidence-based genes and genomic aberrations for CLL, and will enable laboratories to simplify their laboratory workflow by replacing multiple assays with a single one.
Chronic lymphocytic leukaemia is the most common type of leukaemia in adults and is associated with chromosomal aberrations ranging from somatic variants, to small and large CNVs, including trisomies. This complex genetic heterogeneity combined with a lack of sensitive and reliable NGS solutions has meant that scientists currently need to employ multiple methods to build a genomic profile of CLL samples.
One area in particular where NGS has traditionally struggled, is in the detection of CNVs, which can occur in important tumour suppressor genes, such as TP53. Additional techniques such as microarray, karyotyping or fluorescence in situ hybridisation (FISH) are often required to detect these CNVs and structural abnormalities, such as LOH and trisomy 12.
For researchers, the single NGS panel simplifies the workflow and consolidates the profiling of the wide variety of genomic changes into a single analysis. Reliable data analyses can be carried out with OGT’s popular and easy-to-use Interpret software, a complementary and powerful software solution for accurate identification and visualisation of all variants including CNVs.
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