Skip to main content

Holiday schedule

Quest Diagnostics Patient Service Centers will be closed on Monday, September 7th, 2026 in observance of the Labor Day Holiday.  Have a healthy, happy holiday.

Hide
Quest Diagnostics

Genetic Findings in a Cohort of Over 500 Patients Tested with a Multi-gene Spastic Paraplegia Panel

ACMG Annual Clinical Genetics meeting 2025

American College of Medical Genetics

Los Angeles, CA, Mar 18-21 , 2025

Poster presentation: Genetic Findings in Over 500 Individuals Tested with a Spastic Paraplegia Gene Panel  

Authors: MSluyters A, Alakurtti K, Segura Castell M, Hagström Å , Kuisma H, Seppälä E, Gall K, Hathaway J, Scocchia A, Muona M, Saarinen I, Koskinen L, Salmenperä P, Myllykangas S, Koskenvuo J

Specialty: Genetics, Neurology

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
Novel CTNNB1 Variant Leading to Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects Plus Peripheral Neuropathy: A Case Report
Conference Presentation
Diagnosing Repeat Expansion Disorders With PacBio’s PureTarget Repeat Expansion Panel
Conference Presentation
The Allelic Spectrum of SCN4A-Associated Disease in Over 7000 Individuals: Lessons Learned From Genetic Testing

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.