Skip to main content

Upcoming holiday closures 

Quest Patient Service Centers will be closed on Friday, July 3 and Saturday, July 4, 2026, in observance of Independence Day, and to give our frontline team the time to recharge. Don't let the holiday interrupt your care. Plan your visit today.

Hide
Quest Diagnostics

Genotype-First Analysis Is an Effective Strategy for Identifying Diagnostic Variants in Known Disease Genes and Candidate Variants in Novel Genes.

Sociedad Española de Neurologica Pediatricia 2022 (SENEP 2022)

May 26-28, 2022, Benidorm, Spain

Poster presentation: Genotype-first analysis is an effective strategy for identifying diagnostic variants in known disease genes and candidate variants in novel genes.

Authors: Schleit J, Gall K, Saarinen I, du Souich C, Niskakoski A, Tommiska J, Kansakoski J, Tallila J, Kampjarvi K,  Alakurtti K, Wells K, Pelttari L, Koskinen L,  Calco del Castillo M, Kaare M, Perez R Carro, RS Alcudia,  Tuupanen S, Valo S, Kangas-Kontio T, Koskenvuo J, and Alastalo T-P

Specialties: Genetics

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. © 2026 Quest Diagnostics Incorporated. All rights reserved. Image content features models and is intended for illustrative purposes only.