Blueprint Genetics
EVENT
ACMG 2020

> ACMG announced cancellation of the 2020 ACMG Annual Clinical Genetics Meeting. Read more here.

Blueprint Genetics will attend ACMG 2020 held at March 17-21 in San Antonio, Texas.

The Annual Clinical Genetics Meetinghosted by the American College of Medical Genetics and Genomics, provides a great opportunity for the medical genetics community to come together and learn about the latest updates from research and clinical professionals. Visit the official ACMG 2020 website to find more information about the conference. 

We are very proud to be presenting two in-booth talks and six posters. Come and join us to find out what’s shaping the future of genetics and genomics! Visit our team at boot#647 to hear about the latest developments at Blueprint Genetics.

Join the discussion #ACMGMtg20 #GeneticKnowledge   

 

In-booth fast talks and Q&A sessions (15 min) 

Thursday, 3:45 pm – 4:00 pm, Booth: #647

 Advancing the clinical utility of panel testing with a flexible mitochondrial genome analysis 

Chief Medical Officer, Dr. Tero-Pekka Alastalowill discuss how Blueprint Genetics’ Clinical Exome Sequencing (CES) platform provides the highest quality panel analysis, with emphasis on the newly available mitochondrial genome sequencing. 

Friday, 10:15 am – 10:30 am, Booth: #647

 Next Steps with a VUS 

 Blueprint Genetics lab director, Dr. Jennifer Schleitwill provide a brief overview of how VUSs are classified and discuss how clinicians can assist with their reclassification. 

> Read more about the addition of mitochondrial genome analysis to our panels

 

Our poster presentations 

Thursday, March 19, 10:00 am – 11:30 am 

  • Diagnostic Yield Of Genetic Testing Patients With Clinical Suspicion Of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
    Poster number: 583 
  • Genotype-first Analysis Is An Effective Strategy For Identifying Diagnostic Variants In Known Disease Genes And Candidate Variants In Novel Genes
    Poster number: 645 
  • Development Of A Clinical Exome Sequencing Assay For High Throughput Diagnostics Of Inherited Disorders
    Poster number: 707 

Friday, March 20, 10:30 am – 12:00 pm 

  • Improving The Diagnostic Yield In Patients Suspected For Primary Immunodeficiency
    Poster number: 244 
  • Diagnostic Yield And Clinical Utility Of Genetic Testing In Children With Seizure Onset After Two Years Of Age
    Poster number: 542 
  • Validation Of Copy Number Variant (CNV) Detection By A Whole Exome Sequencing Platform And Frequency And Characteristics Of CNVs Identified
    Poster number690 

Supporting the United Mitochondrial Disease Foundation

At Blueprint Genetics, we believe in the power of community. At the ACMG conference this year, we are proud to support the United Mitochondrial Disease Foundation whose mission is to promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families.

For every person that comes to our booth we will make a donation to the United Mitochondrial Disease Foundation to support their efforts!

Meet the team

Visit our booth or book a meeting in advance. We look forward to seeing you there! 

 

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Last modified: 03.09.2020