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Blueprint Genetics
EVENT
American College of Medical Genetics 2021 (virtual)

Blueprint Genetics will be attending the 2021 American College of Medical Genetics (ACMG) Annual Education Conference – a virtual experience

What are the latest advancements in the molecular diagnostics of hearing loss? What is the clinical significance of mitochondrial genome analysis in genetic testing for these conditions? Blueprint Genetics is proud to present our latest data in this field at the Annual Clinical Genetics Meeting on April 13-16, 2021.

Visit our virtual booth to connect with our team and to learn more about our latest research! We are also excited to share our latest updates in accessibility: The expanded Financial Assistance Program in United States.

Our program:

Available on demand with live Q&A session on Thursday, April 15 – 12:30-1:00 PM EST

  • Emerging opportunities in the genetic diagnostics for hearing loss and deafness: A new open access program and the clinical importance of including mtDNA analysis
    Presented by: Jennifer Schleit, PhD, FACMG & Kim Gall MSc, CGC

The ResonateTM program provides genetic testing and optional genetic counseling to review testing results at no cost for for eligible individuals with a clinical diagnosis of auditory neuropathy in the USA.

Abstract Presentation: Friday, April 16 – 12:00-1:00 PM EST

  • Diagnostic yield and clinical utility of genetic testing in children with seizure onset after 2 years of age: An update​
    Presented by: Khalida Liaquat, MS, CGC

Poster Presentations 

  • Biallelic NRAP Variants are a Significant Cause of Dilated Cardiomyopathy
    Presented by: Kim Gall, MSc, CGC
  • Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias
    Presented by: Alicia Scocchia, MS, CGC
  • Next-Generation Sequencing Panels for Hereditary Hearing Loss Testing With Approaches for Difficult-to-Sequence Regions
    Presented by: Kim Gall, MSc, CGC
  • Retrospective review of genetic testing for inherited bone marrow failure syndromes
    Presented by: Zoe Powis, MS, CGC
  • Retrospective review of mitochondrial genome analysis in over 6,600 patients using clinical grade mtDNA sequencing
    Presented by: Jennifer Schleit, PhD, FACMG

Interested in learning more about genetic testing?

Watch our recent webinars to learn more about a wide variety of topics related to genetic testing or read more about our testing options:

Our team is looking forward to meeting you!

We will be available to discuss Blueprint Genetics’ latest updates – be sure to stop by our virtual booth during the exhibiting hours!

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Last modified: April 13, 2021