Survey Schedule and Content

Participating centres will be sent two surveys per year; these are generally distributed in May and November each year. Each survey will comprise 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. Samples provided are either whole blood samples or gDNA from an immportalised cell line.

For each survey, participants are requested to provide a detailed report in English, complying with the Clinical and Molecular Genetics Society guidelines. Participants are also encouraged to use the nomenclature recommended by the Human Genome Variation Society.

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.

Each laboratory receives a report with their individual scores and in addition, a summary report with comments that were highlighted during that particular exercise. Cases are chosen to reflect the variety of referrals that a genetics laboratory is likely to see and the questions posed to them.