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Familial Hypercholesterolaemia (FH)

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Molecular testing for Familial hypercholesterolaemia.

EQA INFORMATION

EQA Code
GFH
Submission
Clinical Report
Techniques
Any methodology
Eligibility
All laboratories worldwide.
Please contact info@genqa.org for further information. 
Language
English, French, German, Italian, Polish, Portuguese, Spanish
EQA Accreditation
EQA accredited to ISO 17043:2023
EQA open

14 April 2025

Testing period
12 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.  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: Case scenario
Testing/analysis: Gene panel, single gene, predictive/family tests
Conditions/Gene target(s):
  • Familial hypercholesterolaemia.
  • APOB, LDLR, LDLRAP1, PCSK9
Number of cases: Three

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Familial Hypercholesterolaemia (FH)

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