Skip to main content
Quest Diagnostics

Diagnosing Primary Immunodeficiencies: The Inclusion of High-Resolution CNV Analysis and Noncoding Variants on Next-Generation Sequencing Panels Improves Diagnostic Yield

National Society of Genetic Councelors
41st Annual Conference

NSG 2022

Nashville, TN, November 16 - 20, 2022

Poster presentation: Diagnosing primary immunodeficiencies: the inclusion of high-resolution CNV analysis and noncoding variants on next-generation sequencing panels improves diagnostic yield

Authors: Davies C, Kimberly Gall, Zöe Powis, Julie Hathaway, Alicia Scocchia, Elina Hirvonen, Päivi Kokkonen, Inka Saarinen, Matias Rantanen, Pertteli Salmenperä, Massimiliano Gentile, Jennifer Schleit, Lotta Koskinen, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo

Specialties: Genetics. Infectious Disease

Disclaimer:  One or more of the authors of this publication were employed at the time by Blueprint Genetics, a subsidiary of Quest Diagnostics.

Our company

Quest® is the brand name used for services offered by Quest Diagnostics Incorporated and its affiliated companies. Quest Diagnostics Incorporated and certain affiliates are CLIA certified laboratories that provide HIPAA covered services.  Other affiliates operated under the Quest® brand, such as Quest Consumer Inc., do not provide HIPAA covered services. 

 

Quest®, Quest Diagnostics®, any associated logos, and all associated Quest Diagnostics registered or unregistered trademarks are the property of Quest Diagnostics. All third-party marks—® and ™—are the property of their respective owners. © 2024 Quest Diagnostics Incorporated. All rights reserved. Image content features models and is intended for illustrative purposes only.