European Human Genetics Conference

Blueprint Genetics will be attending the European Human Genetics Virtual Conference

ESHG 2021 will offer the most exciting advancements in the field of human genetics. This meeting will bring together clinicians and scientists to provide the latest research and clinical advances. Please find more information on ESHG website.

Our program:

Satellite Session: Monday, August 30 – 12:00-13:00 CEST

Bringing Clinical Value Through Enhanced Panel-based Testing

In this two-part session, Executive Medical Director Tero-Pekka Alastalo, MD, PhD, presents how mtDNA analysis can improve the diagnostic yield of panel-based testing across different medical specialties. In the second part, Senior Manager of Genomic Services Kim Gall, MS, CGC, talks about solving diagnostic challenges in difficult-to-sequence regions with a special focus on hearing loss.

Presented by: Tero-Pekka Alastalo, MD, PhD & Kim Gall MSc, CGC. Please find our Satellite Session here. 

Abstract Presentations:

  • Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias. Saturday, 28 August 14:45—15:30 CEST, Presented by Satu Valo, PhD
  • Retrospective review of genetic testing for inherited bone marrow failure syndromes. Saturday, 28 August 14:45—15:30 CEST, Presented by Elina Hirvonen, PhD
  • Review of mitochondrial genome analysis in over 7,500 patients using clinical grade mtDNA sequencing. Saturday, 28 August 14:45—15:30 CEST, Presented by Jonna Tallila, PhD
  • Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions. Tuesday, 31 August 11:45-12:30 CEST, Presented by Laura Sarantaus, PhD

Interested to learn more?

Our team is looking forward to meeting you!

We will be available to discuss Blueprint Genetics’ latest updates at this event – be sure to stop by our profile page during the conference!

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