2022 National Society of Genetic Counselors (NSGC) Conference

Blueprint Genetics will be attending the National Society of Genetic Counselors (NSGC) 41st Annual Conference 11/16/2022 – 11/20/2022 in Nashville, TN.

The NSGC Annual Conference showcases advancements across the breadth of the genetic counseling profession to provide education and build community. Attendees will gain knowledge of clinical and scientific best practices and insights into emerging research. The conference provides a unique opportunity to engage and network with colleagues and pursue professional development.

Blueprint Genetics is proud to present our latest data in this field at the NSGC Annual Conference on 11/16/2022 – 11/20/2022.

Find the preliminary program from the NSGC 2022 webpage.

Our program:

Poster Presentations (all presented in the ePostersLive system):

• Comparison between primary immunodeficiency panel and comprehensive immune and cytopenia panel in the diagnosis of inborn errors of immunity
  Presented by: Kim Gall, MSc, CGC

• Diagnosing Primary Immunodeficiencies: The inclusion of high-resolution CNV analysis and non-coding variants on next-generation sequencing panels improves diagnostic yield.
  Presented by: Christine Davies, MSc, CGC

• Characterization of molecular diagnosis of inherited retinal disease within a large pediatric cohort undergoing comprehensive retinal dystrophy panel next-generation sequencing analysis
  Presented by: Laura Fuqua, MS, CGC

• Quantifying the Potential of Genetic Sequencing for Identification and Treatment for Patients with Inherited Retinal Disease
  Presented by: Colleen Schmitt, MGC, CGC

• The Importance of Panel-Based NGS Testing in a Cohort of Patients with Pulmonary Arterial Hypertension
  Presented by: Halle Bartus, MS, GC

• Clinical utility of NGS Panel Testing for Patients with CHD: Findings in a Chohort of >200 Patients
  Presented by: Julie Hathaway, MSc., CGC, CCGC

• Evaluating the impact of mitochondrial testing and non-coding variants on diagnostic yield of a comprehensive panel in patients with monogenic diabetes
  Presented by: Allison Wood, MS, CGC

• Characterization of molecular diagnostic results in an unselected cohort of patients with suspected congenital hypothyroidism or resistance to thyroid hormone
  Presented by: Christele du Souich, MSc, CCGC, CGC

• Diagnostic utility of next-generation sequencing-based panel testing in 1279 patients with suspected cystic kidney disease
  Presented by: Erin Tapper, MS in Genetic Counseling Candidate

Help us define QUALITY genetic testing!

At Blueprint Genetics we continually strive to improve and expand on what quality can mean in the field of genetic diagnostics. Our belief in quality and our patient-centric mindset are the driving force behind our advanced technology, experience, and support.

Together with your colleagues you can help shape what quality stands for in genetic testing! Join the conversation at booth #223.

Our team of medical experts are here to speak with you!

Visit booth #223 inside the exhibit hall or book a meeting with any of our team members to discuss Blueprint Genetics’ latest updates.