It is well known that the majority of haematological disorders are caused by genomic changes such as point mutations, chromosomal rearrangements, copy number variations (CNVs) or a combination of these. Technological advances have enabled us to uncover disease-driving mutations and translate these findings to actionable targets.
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Classifying tumours based on genetic makeup regardless of origin is revolutionising our approach to studying cancer. The determination of mutation type — including single point mutations, translocations, copy number variations (CNV) or loss of heterozygosity (LOH) — can guide research into diagnostic and prognostic applications, and allow for truly personalised treatment options.
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Profiling a range of mutations, from large chromosomal rearrangements to single-exon duplications and point mutations, is integral to solving the puzzle of rare disease, and contributes to the long-term aim of improving the lives of rare disease patients.
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