PAGC 2019

Blueprint Genetics is sponsoring the annual meeting of Pennsylvania Association of Genetic Counselors, taking place in Harrisburg on May 9-10, 2019. This year’s agenda is packed with diverse content; read more about the program.

What Blueprint Genetics offers:

• Unique panel offering across multiple medical specialties, including ophthalmology, cardiology, nephrology, dermatology and immunology
• We offer high-resolution CNV analysis and ~1500 clinically relevant deep intronic variants
• Mean sequencing depth of 174x with ≥99.4% of target base pairs covered at ≥20x
• Customizable NGS panels with easy and cost-effective option to expand to WES
• Improved diagnostic performance in difficult-to-sequence regions, including PKD1, RPGR (ORF15), GBA and SMN1
• Expert team of laboratory molecular geneticists and clinical specialists who author our detailed clinical reports

Interested to learn more?

• Recent webinars:
  • What if it’s a Variant of Uncertain Significance (VUS)?
  • High Quality Genetic Diagnostics of Polycystic Kidney Disease with NGS Technology
  • Genetic Testing to Enhance the Value of a Patient Registry – A case Study in the Inherited Retinal Dystrophies
  • Shedding Light on Complex Regions in Genetics
• Read interview: 6 Things You Might Not Know About Whole Exome Sequencing
• Education and resources: Read our recent posters

Meet us

Meet Blueprint Genetics’ Shea Rauch, MS, CGC to discuss the latest updates in genetic testing.