Mutation analysis
Each tumour shows a different set of genetic changes (mutations). The information regarding these mutations, which is obtained by sequencing DNA, is playing an increasingly important role both in diagnostics and cancer treatment (in prognostic and predictive terms for decisions regarding treatment).
Two main sequencing methods are used: Sanger sequencing and next-generation sequencing (NGS).
Material
For both methods, histological sections/block specimens, cytological specimens and fresh tissue can be used.
Next-generation sequencing (NGS)
All relevant mutations can now be detected within a short space of time through parallel sequencing of several genes on the tumour DNA and RNA using high-throughput sequencing (so-called next-generation sequencing, NGS). In particular, NGS enables targeted DNA- and RNA-based sequencing for the simultaneous detection of clinically relevant mutations, copy number variations and fusion transcripts. It can also be used for small biopsies with low tumour cell content. This method shows robust results in routine diagnostics and meets today’s requirements for therapy stratification.
Downloads
Sanger sequencing
Sanger sequencing is considered one of the classic methods of DNA sequencing and makes it possible to determine the base sequence for short sequences of a specific gene. In tumour diagnostics, DNA sequences from sick patients are compared with DNA sequences from healthy people to identify mutated DNA sequences in the tumour.