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Huntington disease (HD) and DRPLA

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Molecular testing for Huntington disease and DRPLA.

EQA INFORMATION

EQA Code
GHD
Submission
Clinical Report
Techniques
Any methodology
Eligibility
All laboratories worldwide.
Language
English, French, German, Italian, Polish, Portuguese, Spanish
EQA Accreditation
EQA accredited to ISO 17043:2023
EQA open

09 June 2025

Testing period
7 weeks

OTHER INFORMATION

What are participants required to do?
  • Enrolled participants will receive details by email when an EQA is open for assessment and/or samples have been dispatched.  
  • Participants are expected to access the instructions and information for the cases/samples online and to analyse them according to their laboratory/centre protocols. 
  • Participants must submit their anonymised results by the deadline using their standard laboratory report.  In addition, participants may be asked to separately submit their tandem repeat sizes for data collection purposes only.  The submitted results are independently assessed for the accuracy of the analytical/genotyping results, clinical interpretation of the results (if appropriate) and clerical accuracy (including report layout and content). 

What can I expect as a participant?
Every participant will receive:
  • An Individual Laboratory/Centre Report (ILR/ICR) with educational advice for each distribution of this EQA.
  • The Summary report for each distribution of this EQA which contains information regarding general findings, a summary of methodologies used, common errors, number of participants and benchmarking. 
  • Access to a live Performance Certificate summarising your performance status for all EQAs in which you are enrolled.

Please note: EQA details may be subject to change prior to EQA distribution.   

PRODUCTS

Sample type: DNA in TE buffer
Testing/analysis: (CAG)n analysis for Index case, presymptomatic/family tests.
Conditions/Gene target(s):
  • Huntington disease (HD)
  • Dentatorubral-pallidoluysian atrophy (DRPLA) 
  • ATN1, HTT
Number of cases: Three

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Huntington disease (HD) and DRPLA

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