Mutation detection

Cancer gene mutations are increasingly being used as biomarkers for diagnosis, prognosis, treatment stratification, and monitoring of therapy response. At Biogazelle digital PCR is used for detection of specific cancer gene mutations in DNA or RNA, whereas RNA sequencing technology is used to study transcriptome wide gene mutations in RNA.

Related topics: custom primer design, sample preparation, RNA sequencing, digital PCR, clinical trials, liquid biopsies, diagnostic services, data analysis, quality, why Biogazelle

small-mutation-detection-blueDetect any mutation with highest resolution and accuracy on clinically relevant
samples, including cell-free DNA, with best-in-class digital PCR assays.

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Targeted mutation analysis using digital PCR

Using droplet digital PCR, Biogazelle determines the fractional presence of specific mutations in various sample types, including FFPE tissue and plasma. More than 2500 off-the-shelf mutation detection assays are available, including assays for most commonly mutated genes in cancer, such as ABL1, AKT, ALK, APC, BRAF, CDKN2A, CTNNB1, EGFR, FGFR3, KRAS, NRAS and TP53.

If no off-the-shelf assays are available, Biogazelle performs custom primer design and validation.

For commonly mutated genes, ddPCR Multiplex Mutation Screening Kits, designed for rapid screening of several key cancer mutations in a single reaction, are available: BRAF V600, KRAS G12/G13, KRAS Q61, NRAS G12/G13, NRAS Q61 and EGFR exon 19 deletions. These kits are validated for use on FFPE samples and liquid biopsies and have a limit of detection of ≤ 0.5%.

Transcriptome wide screening for expressed variants

Biogazelle has developed a dedicated RNA sequencing variant analysis pipeline, allowing the detection of single nucleotide variants, small insertions and deletions, fusion genes and RNA editing events using RNA sequencing data. The pipeline is benchmarked on matched RNA and DNA sequencing data and provides an opportunity to go beyond gene expression profiling.

Our mutation analysis solutions

  • any kind of sample: cells, tissues, FFPE, whole blood, PBMCs, plasma, serum, urine, CSF, stool, etc.
  • for human, mouse and rat
  • including sample preparation
  • targeted mutation analysis with digital PCR using validated off-the-shelf or custom assays in a GCLP-compliant environment
  • data processing using validated software - read more
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