A Dispute on Rare Disease Diagnostic Offerings

Reply letter to Battke et al.

CENTOGENE was amongst the first providers of diagnostic Whole Genome Sequencing (WGS) and published real-life experience with this technology in 2020. That paper was subsequently challenged in a ‘Letter to the Editor’ by a competitor. We happily accepted the offer to draft a reply – advocating our arguments in favor of WGS and emphasizing our ambition to offer the best available diagnostic solutions to our patients. The dispute appeared in the European Journal of Human Genetics.


  • Aida M. Bertoli-Avella , MD
  • et al.