We use cookies to collect information, and enable our website to work properly. Please tell us whether you accept cookies by clicking the button below. If you decide not to accept cookies, our site may not work as expected and some information may not be available.
Click here for more information on cookies, including how to remove them.
Presentation at a haematology clinic of an individual with haematological problems/neoplasia and a positive family history. NGS analysis of haematological samples for recurrent genomic abnormalities associated with inheritable bone marrow failure syndromes. For analysis of follow up germline samples, please see the Inherited cytopenias EQA.
EQA INFORMATION
EQA Code
HBMF
Submission
Clinical Report
Techniques
Next Generation Sequencing (NGS), Sanger sequencing, Whole genome analysis
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, 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:
NGS testing
Single gene analysis
Conditions/Gene target(s):
Dyskeratosis congenita
Diamond Blackfan anaemia
Fanconi anaemia
Shwachman Diamond syndrome
Congenital thrombocytopenia
Neutropenia with a positive family history
We aim to include a variety of tests within each 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.
NEWSLETTER SIGN UP