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Blueprint Genetics
EVENT
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 

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

 

Abstract Presentations:

  • Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias. Presented by Satu Valo, PhD
  • Retrospective review of genetic testing for inherited bone marrow failure syndromes. Presented by Elina Hirvonen, PhD
  • Review of mitochondrial genome analysis in over 7,500 patients using clinical grade mtDNA sequencing. Presented by Jonna Tallila, PhD, Saturday June 12
  • Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions. 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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Last modified: June 02, 2021