The UK National External Quality Assessment Scheme for heritable bleeding disorders.
Molecular genetic analysis of families with hemophilia and other heritable bleeding disorders is a frequently requested laboratory investigation. In the United Kingdom, laboratories undertaking genetic testing must participate in a recognized external quality assessment scheme for formal accreditation. The UK National External Quality Assessment Scheme (UK NEQAS) for heritable bleeding disorders was established in its current format in 2003, and currently has 27 registered participants in the United Kingdom, the European Union (EU), and the non-EU countries. Two exercises per annum are circulated to participants comprising either whole blood or DNA isolated from cell lines, and laboratories are allowed 6 weeks to analyze the samples and generate a report. Reports are assessed by a panel comprising clinicians and scientists with expertise in this area. Samples to date have involved analysis of the F8 gene (10 exercises), the F9 gene (4 exercises), and the VWF gene (3 exercises) and have comprised a wide spectrum of mutations representing the routine workload encountered in the molecular genetics laboratory. The majority of laboratories in each exercise passed, but a small number did not and reasons for failing included clerical errors, genotyping inaccuracies, and a failure to correctly interpret data. Overall we have seen an improvement in quality of reports submitted for assessment, with a more concise format that will be of value to referring clinicians and counsellors. Informal feedback from participants has been very positive.
Cambridge Haemophilia and Thrombophilia Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
David J
DJ
Perry
Department of Haematology, Molecular Diagnostics Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.
Tony
T
Cumming
Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, United Kingdom.
Anne
A
Goodeve
Molecular Diagnostics Section, Blood Sciences, Empath Pathology Services, Nottingham University Hospitals, Queens Medical Centre Campus, Nottingham, United Kingdom.
Marian
M
Hill
UK NEQAS for Blood Coagulation, Sheffield, United Kingdom.
Ian
I
Jennings
Coagulation Department, Royal Hallamshire Hospital, Sheffield, South Yorkshire, United Kingdom.
Steven
S
Kitchen
UK NEQAS for Blood Coagulation, Sheffield, United Kingdom.
Isobel
I
Walker
D002460:Cell Line; D019411:Clinical Laboratory Techniques / Q000379:methods / Q000592:standards; D004252:DNA Mutational Analysis; D005164:Factor IX / Q000235:genetics; D005169:Factor VIII / Q000235:genetics; D005820:Genetic Testing / Q000379:methods / Q000592:standards*; D005838:Genotype; D006474:Hemorrhagic Disorders / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D011786:Quality Control; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D017749:Total Quality Management / Q000379:methods* / Q000639:trends; D006113:United Kingdom; D014841:von Willebrand Factor / Q000235:genetics
D014841:von Willebrand Factor; D005169:Factor VIII; D005164:Factor IX