1. ¹Unité Médicale des Maladies Auto-Inflammatoires, CHU Montpellier, Montpellier, France
2. ²Unidad de Enfermedades Autoinflamatorias y Amiloidosis, Servicio de Inmunologia, Hospital Clínic Barcelona, IDIBAPS, Spain
3. ³Sheba Medical Center, Tel-Hashomer Ramat Gan, Israel
4. ⁴NIH/NIAMS/GGB, Bethesda, MD, USA

Correspondence: Professor I Touitou, Unité Médicale des Maladies Auto-Inflammatoires, CHU Montpellier, Institut de Génétique Humaine, CNRS-UPR1142, and Université Montpellier 1, Montpellier F-34275, France. Tel: + 33 4 67 33 58 59; Fax: + 33 4 67 33 58 67; E-mail: isabelle.touitou@igh.cnrs.fr

Received 17 June 2008; Revised 6 October 2008; Accepted 26 November 2008; Published online 28 January 2009.

Abstract

Hereditary recurrent fevers (HRF) are rare diseases caused by molecular defects in genes involved in the regulation of innate immunity. Sixty-seven international laboratories participated in an external quality assessment (EQA) scheme, which was developed to appraise the accuracy of genetic testing. Reports were evaluated for the 12 items recommended by the OECD (Organisation for Economic Co-Operation and Development) guidelines for molecular diagnostics. The best documented items were the name of the gene, the biologist, or the patient, whereas information on the test and screening limits, and clinical interpretation of the disease inheritance were scarcely provided. The mutation nomenclature was incomplete in about 70% of the cases. In the first 2 years of EQA, we identified almost 30% genotyping error rate, which decreased markedly in the last year. The combined performance on the basis of the correct identification of all genotypes by a given laboratory in all the 3 years was only 40%, showing a critical need for improvement.