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Suitable for both molecular and/or cytogenomic testing.
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 or a proforma provided by GenQA. 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: Single or multiple genes. Familial/predictive/carrier testing.
Conditions/Gene target(s):
Myotonic dystrophy type 1 (DM1)
Prader Willi syndrome (PWS)
Spinal muscular atrophy (SMA)
DMPK, SMN1, SMN2, SNRPN
Different disorders are included in each case. If your laboratory does not routinely test for all of these diseases, then please contact GenQA.
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