Abstract Number: PB1102
Meeting: ISTH 2022 Congress
Background: The programme blends whole blood sample distribution, to assess laboratory methods for variant analysis, with paper exercises to scheme participants.
Aims: To provide vertical and horizontal auditing of laboratory methods for variant analysis.
Methods: Participants have wet and dry exercises annually to assess analytical platforms plus interpretation and reporting processes.
Results: For whole blood exercises, all centres correctly identified the genetic variant in case 1; marks were lost for omissions in the interpretative reports. In case 2, all participants investigating a F8 Intron 22 inversion achieved full marks. This demonstrates improvement in methodologies used to perform genetic analysis compared to an exercise in 2011 when 4/22 centres failed to identify the variant. For the paper exercises, the variant classification for F5 had 100% of participants reporting that the variant was either pathogenic or likely pathogenic for c.5044G>T and 80% made the same conclusion for c.6419G>A. For PROS1, 100% of participants reported the variant either pathogenic or likely pathogenic for c.1063C>T and 70% reported the variants either a disease associated polymorphism/variant of uncertain significance for c.1501T>C.
Conclusion(s): The scheme offers a blended approach to participants from genetics laboratories, testing platforms used for variant analysis and encouraging use of recommended guidelines for clinical reporting procedures.
To cite this abstract in AMA style:
Reilly-Stitt C, Jennings I, Hill M, Page A, Wheeler R, Sutherland M. UK NEQAS (Blood Coagulation) Genetics of Heritable Bleeding and Thrombotic disorders programme – a review of External Quality Assessment (EQA) Scheme exercises 2021. [abstract]. https://abstracts.isth.org/abstract/uk-neqas-blood-coagulation-genetics-of-heritable-bleeding-and-thrombotic-disorders-programme-a-review-of-external-quality-assessment-eqa-scheme-exercises-2021/. Accessed March 21, 2024.« Back to ISTH 2022 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/uk-neqas-blood-coagulation-genetics-of-heritable-bleeding-and-thrombotic-disorders-programme-a-review-of-external-quality-assessment-eqa-scheme-exercises-2021/