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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 details of their gene panel 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: Gene panel, single gene, predictive/family tests
Conditions/Gene target(s):
FGFR2-related disorders: Apert syndrome, Crouzon syndrome and Pfeiffer syndrome
FGFR3-related disorders: Achondroplasia, Hypochondoplasia, Thanatophoric dysplasia and Muenke syndrome
Osteogenesis imperfecta
COL2A1-related disorders: Achondrogenesis, type II and hypochondrogenesis and Spondylometaphyseal dysplasia
SOX-9 related disorders: Campomelic dysplasia
Skeletal dysplasia: metaphyseal dysplasias, multiple epiphyseal dysplasia and pseudoachondroplasia
COL1A1, COL1A2, COL2A1, FGFR2, FGFR3, SOX9
We aim to include a variety of disorders / scenarios / tests within each EQA. For this EQA you may opt out of any case if it is outside of your routine laboratory scope, by following the instructions in the EQA Distribution letter.
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