U.K. NEQAS for
Molecular Genetics of Haemophilia

INTRODUCTION

By providing external quality assessment for tests detecting Molecular Genetics of Haemophilia, as a part of the overall quality assurance, the programme aims to promote high standards of performance and practice, achieved with the UK NEQAS primary aim of education, by provision of independent, objective and impartial information.

(There is a separate programme for Thrombophilia Genetics)

WHO CAN TAKE PART?

The programme is open to all potential participants, whether government supported, private or commercial concerns, and are run on a not for profit basis, under the auspices of the UK National External Quality Assessment Service, and professional bodies

The participant registered should be the centre responsible for performing the tests.  Data from participants will be treated with strict confidentiality.

HOW DOES IT WORK?

Participating centres will be sent two surveys per year, each survey comprising material for investigation together with clinical details.

Samples are obtained from donors who have previously been screened for hepatitis B surface antigen (HBsAg), and for antibodies to human immunodeficiency virus types 1 and 2 (anti-HIV-1+2).  On occasion samples may only be available from individuals who have screened positive for antibodies to hepatitis C virus.  In such cases participants will be forewarned and allowed to request that this material is not sent to their laboratory.

For each survey participants are requested to provide a detailed report complying with the Clinical and Molecular Genetics Society.  Participants are also encouraged to use the nomenclature recommended by the Human Genome Variation Society. (http://www.genomic.unimelb.edu.au/mdi/).    A closing date for return of results will be given, normally six weeks after the date of survey distribution.  Individual reports based on the analysis of returned results will be sent to participants as soon as possible after the survey closing date.

PERFORMANCE ANALYSIS

Reports are anonymised and then scored by the Advisory Group of experts in the field of Haemophilia Genetics using three categories; clerical, genotyping and interpretation.   Failure in any one category confers an overall fail for the exercise.