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Holiday schedule

Quest Diagnostics Patient Service Centers will have modified hours during the holiday season.

  • Closing early at 12:00pm on December 24, 2025
  • Closed on December 25, 2025
  • Closing early at 12:00pm on December 31, 2025
  • Closed on January 1, 2026


Have a healthy, happy holiday!

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Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS

Authors: Mazzola L, Oliver KL, Labalme A, Baykan B, Muona M, Joensuu TH, Courage C, Chatron N, Borsani G, Alix E, Ramond F, Touraine R, Bahlo M, Bebek N, Berkovic SF, Lehesjoki AE, Lesca G.

Ann Neurol. 2020 Oct 21. doi: 10.1002/ana.25941. Online ahead of print.

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

Specialties: Genetics