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Other related EQAs: For in depth genotyping analysis and interpretation for SMA using DNA samples, please enrol in the GenQA Hypotonic Infant EQA.
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. The submitted results are independently assessed for the accuracy of the analytical/genotyping results.
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 and
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 summarizing their performance status for all EQAs in which they are enrolled.
Please note: EQA details may be subject to change prior to EQA distribution.
PRODUCTS
Sample type: Bloodspot on neonatal screening card
Testing/analysis: Index case only. Test for the common SMN1 deletion.
Conditions/Gene target(s):
Spinal muscular atrophy (SMA)
SMN1
Number of cases: Eight per year (two per distribution)
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