Skip to main content
Quest Diagnostics

Genetic Results in a Cohort of 489 Patients With Inherited Myopathies

ACMG Annual Clinical Genetics Meeting, 2024

American College of Medical Genetics and Genomics

Toronto, Canada, March 12-16, 2024

Poster presentation: Genetic Results in a Cohort of 489 Patients With Inherited Myopathies

Authors: Gall K, Hathaway J, Koskinen L, Alakurtti K, Hagström Å , Segura Castell M, Kuisma H, Seppälä EH, Djupsjöbacka J, Muona M, Pietilä T, Salmenperä P, Saarinen I, Veeraraghavan R, Myllykangas S, Koskenvuo J

Specialty: Genetics

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

Related content

Publication
X linked myotubular myopathy mimics hereditary spastic paraplegia in two
Conference Presentation
An Automated Quality Control System for the Biochemical Genetics Laboratory
Conference Presentation
Searching beyond exons in nuclear genes: Diagnostic deep intronic and mitochondrial DNA variants in patients with monogenic diabetes
Conference Presentation
Small CNVs, noncoding, and mitochondrial variants are molecularly diagnostic for 4.7% of pediatric patients with inherited retinal disease

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.