MolPath ConsultingMolecular pathology · Vienna

Consulting

NGS & Molecular Diagnostics Consulting

Developing a reliable molecular assay starts with its intended use. I support decisions about assay design, validation, workflows and interpretation, with particular experience in molecular oncology.

Assay development and implementation

Support for targeted DNA and RNA sequencing, fusion testing and tumour profiling, from platform selection to integration into routine pathology.

  • Panel and assay selection for the diagnostic question
  • FFPE workflows and pre-analytical considerations
  • DNA and RNA testing, including RNA fusion analysis
  • Quality control, troubleshooting and result interpretation
  • Integration of molecular findings into pathology reporting

NGS assay validation

A useful validation plan defines what the assay is expected to detect, in which specimens, and under which quality conditions. I can review your strategy and its supporting data.

  • Accuracy, repeatability and reproducibility
  • Analytical sensitivity and limit-of-detection study design
  • Variant classes, reportable range and specimen requirements
  • Bioinformatics validation considerations
  • Acceptance criteria and validation documentation

Liquid biopsy and MRD

I also advise on ctDNA and MRD assay concepts, including mutation tracking, molecular input, sequencing depth and interpretation of analytical performance claims.

What a project can deliver

A review of your validation plan, an assessment of analytical data, recommendations for additional experiments, or practical advice for introducing a new molecular assay.

Let’s discuss your project.

Tell me what you are working on and where you need support.

Discuss a consulting project