PB1102 - UK NEQAS (Blood Coagulation) Genetics of Heritable Bleeding and Thrombotic disorders programme - a review of External Quality Assessment (EQA) Scheme exercises 2021.

Tuesday, July 12, 2022

6:30 PM – 7:30 PM

Location: Exhibition

Presentation Format: In-Person

Presenting Author(s)

CR

Christopher Mark Peter Reilly-Stitt, MSc

Deputy Programme Manager
UK NEQAS BC
Sheffield, England, United Kingdom

Co-Author(s)

IJ

Ian Jennings

Programme manager
UK NEQAS BC
Sheffield, England, United Kingdom
MH

Marian Hill

Clinical Scientist
Nottingham University Hospital NHS Trust
Nottingham, England, United Kingdom
AP

Andrew Page

Clinician
Royal Infirmary of Edinburgh
Edinburgh, Scotland, United Kingdom
RW

Ruth Wheeler

Clinical Scientist
Viapath Analytics LLP
LONDON, England, United Kingdom
MS

Megan Sutherland

Clinical Scientist
Manchester University NHS FT
Manchester, England, United Kingdom

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.