Blueprint Genetics will be attending the 37th Annual Conference of the National Society of Genetic Counselors.
NSGC 2018 will showcase the latest 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.
Find out more about NSGC 2018 here.
Visit us at Booth #732 at NSGC 2018 to learn more about the exciting advances happening at Blueprint Genetics-
- Whole exome sequencing is a diagnostic tool for patients with complex genetic disorders, where the correct diagnosis is difficult to determine due to overlapping phenotypes, complicated medical histories, and/or previous genetic testing which has not yielded conclusive results.
- The aim of the Nucleus Connecting Clinicians Open platform is to make rare genomic data accessible to health care professionals around the world. This platform provides them with the opportunity to share knowledge and phenotypes for rare disease patients with a Variant of Uncertain Significance (VUS) and Likely Pathogenic variants.
- All our panels are sliced from whole exome sequencing data. Panels can be customized by adding genes from the single gene list or by removing genes from the selected panel. The Single Gene list contains 2,526 high quality genes with ≥99.5% of base pairs (bp) covered at ≥20x.
- If your patient’s previous genetic testing (panel, single gene test) is inconclusive or there is a diagnostic finding that doesn’t explain the whole phenotype, you can provide your patient with the most comprehensive genetic test by expanding to whole exome sequencing.
Meet your NSGC 2018 Blueprint Genetics team:
Meena Kumar, MS, CGC
Sales Director, Canada
Senior Director of Business Development
Shea Rauch, MS, CGC
Genetic Services Consultant