Introducing 210 new genetic tests, covering over 2,000 genes.

Published on March 2, 2016

Providing actionable genetic knowledge for all medical specialties

Join us at ACMG, where we are excited to introduce 210 new tests bringing our world-class testing and interpretation to all medical specialties. Learn about our revolutionary clinical interpretation process, powered by IBM Watson, which makes it possible for our team to deliver clinical statements packed with actionable #GeneticKnowledge. We are also pleased to introduce our new online portal for connecting healthcare professionals around the world.

We are at the same time launching our new websites for each of the medical specialties presenting all 210 new panels and our analysis methods Sequence Analysis, Deletion/Duplication Analysis as well as whole Genome Del/Dup (CNV) Analysis.

Stop by our booth #721 to learn more about how we’re changing genetic diagnostics, or go online to visit us new website on March 9th at www.blueprintgenetics.com

 

We pioneer new technologies to bring you life-changing genetic knowledge. 

This is what we will offer you.

 

Changing diagnostics

We use next-generation (NGS) sequencing technology, bringing you fast, affordable, and accurate results.

  • Unique OS-SeqTM targeted NGS technology developed at Stanford University, published in Nature
  • Full coverage of medically actionable genes
  • 210 tests for all medical specialties, covering over 2,000 genes
  • Sequence analysis
  • Targeted Del/Dup (CNV) analysis
  • Whole Genome Del/Dup (CNV) analysis
  • Rapid TAT
  • Competitive pricing
  • Clinical Genetics Consultancy

Providing knowledge

Our advanced interpretation process enables our team of geneticists and clinicians to bring you the most clinically actionable reports available on the market.

  • Comprehensive clinical statement prepared by our team of geneticists and clinicians
  • Results interpretation powered by IBM Watson technology
  • Clinical statements with high diagnostic yield
  • Easy online ordering and results delivery through our secure portal, Nucleus

Connecting clinicians

We developed our own professional network so that you can connect with clinicians from all over the world to gain and share knowledge and better serve your patients with rare inherited diseases.

  • Online platform for connecting healthcare professionals around the world
  • Easily find and network with clinicians treating patients with similar genetic defects
  • Facilitates collaboration between colleagues in the medical field
Last modified: 03.02.2016

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Published on September 21, 2018

This study1 provides the first substantial evidence of the JPH2 gene associating with monogenic familial hypertrophic cardiomyopathy (HCM). The study ‘Heterozygous Junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure’ was published recently in PLOS ONE. Hypertrophic cardiomyopathy is considered the most common form of inherited cardiomyopathies,…

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