Skip to main content

Holiday schedule

Our Patient Service Centers will be closed on Thursday, November 28, 2024 in observance of Thanksgiving. Have a healthy, happy holiday.

Hide
Quest Diagnostics

Next-Generation Sequencing-Based Panel Testing Identifies Heterogeneous Genetic Etiologies of Short Stature

European Society of Human Genetics

ESHG 2023

Glasgow, Scotland, UK, June 10-13, 2023

Poster presentation: Next-generation sequencing-based panel testing identifies heterogeneous genetic etiologies of short stature

Authors: Huusko J, Scocchia A, Kyöstilä K, Ramirez LG, Pelttari L, Valo S, Lindström R, Si C, Gall K, Saarinen I, Muona M, Pietilä T, Djupsjöbacka J, Gentile M, Salmenperä P, Seppälä E, Tuupanen S, Koskinen L, Kangas-Kontio T, Paananen J,  Myllykangas S, Koskenvuo J

Specialty: Genetics, Endocrinology, Cardiology, Cardiovascular disease, 

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

Related content

The Utility of Exome Sequencing for Neurodevelopmental Disorders at a Large Reference Laboratory
Publication
Opt in for secondary findings as part of diagnostic whole exome sequencing real life experience from an international diagnostic laboratory
Publication
Target Enrichment Approaches for Next-Generation Sequencing Applications in Oncology
Publication
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

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.