2022 ACMG Annual Education Conference

Blueprint Genetics will be attending the 2022 American College of Medical Genetics (ACMG) Annual Education Conference at the Music City Center in Nashville, TN on March 22-26, 2021.

The ACMG Annual Meeting offers an opportunity for the medical genetics community to come together and learn about both research and clinical updates that inform their daily practice.Come and join us to find out what’s shaping the future of genetics and genomics! Visit our team at booth #1108 to hear about the latest developments at Blueprint Genetics. Join the discussion #ACMGMtg22 #GeneticKnowledge and read more about the meeting HERE.

Our program:

ePoster Presentations – available on the online platform with an audio tour:

• Next-Generation sequencing panels for cystic kidney disease with improvements for sequencing and alignment challenges
  Presented by: Kim Gall, MSc, CGC
  Poster Number: eP351
  
• Searching beyond the exons in nuclear genes: Deep intronic and mitochondrial DNA variants are identified as molecular diagnoses for patients with monogenic diabetes
  Presented by: Alicia Scocchia, MS, CGC
  Poster Number: eP398
  
• Characterizing molecular diagnostic findings from next-generation sequencing panel testing for individuals with suspected congenital hypothyroidism or resistance to thyroid hormone
  Presented by: Alicia Scocchia, MS, CGC
  Poster Number: eP399
  
• Diagnostic Yield of Genetic Testing in an Unselected Cohort of Patients with Congenital Heart Disease
  Presented by: Julie Hathaway, MS, CGC
  Poster Number: eP359
  
• Genetic Findings in a Cohort of Patients with Pulmonary Arterial Hypertension Referred for NGS Panel Testing
  Presented by: Julie Hathaway, MS, CGC
  Poster Number: eP358
  

We are proud to further enhance the clinical utility of our testing offering with a major panel update.

More than 650 genes have been added to 55 panels across 13 medical specialties. This update takes into account the latest, most relevant scientific findings and customer requests to maximize meaningful results for patients.

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:

• Webinar: Beyond the Nucleus: Combining Panel-based NGS Testing with mtDNA Analysis
• Genetic testing for mitochondrial disorders
• Accessibility in genetic testing: Financial Assistance Program in United States

Our team is looking forward to meeting you!

Come and join us to find out what’s shaping the future of genetics and genomics! Visit our team at booth #1108 to hear about the latest developments at Blueprint Genetics.