Skip to main content

Holiday schedule

Our Patient Service Centers will be closed on Wednesday, December 25, 2024 in observance of Christmas and Wednesday, January 1, 2025 in observance of New Year's Day. Have a healthy, happy holiday.

Hide
Quest Diagnostics

Small CNVs, Noncoding, and Mitochondrial Variants Are Molecularly Diagnostic for 4.7% of Pediatric Patients With Inherited Retinal Disease

Canadian Association of Genetic Councellors
CAGC 2022

Virtual, October 12 - 15, 2022

Poster presentation: Small CNVs, noncoding, and mitochondrial variants are molecularly diagnostic for 4.7% of pediatric patients with inherited retinal disease

Authors: Gall K, Sanchez Navarro I, Hathaway J,  Scocchia A, Kämpjärvi K, Känsäkoski J, von Nandelstadh P, Gandia M, Vattulainen-Collanus S, Mak K-Y, Mikk M-L, Casanovas S, Sarantaus L, Västinsalo H, Saarinen I, Tuupanen S, Koskenvuo J

Specialties: Genetics, Pediatrics

 

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.