Survey Schedule and Content

Molecular Genetics of Thrombophilia Survey Schedule 2017/18
MOLECULAR GENETICS OF THROMBOPHILIA Surv[...]
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Molecular Genetics of Thrombophilia Survey Schedule 2018/19
MOLECULAR GENETICS OF THROMBOPHILIA Surv[...]
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Participating centres will be sent three surveys per year; each survey includes whole blood samples for FV Leiden screening, and P20210A mutation screening. Results are invited to be returned from either or both of these tests for the samples in each survey, for the three surveys in a participation year (please see Distribution Schedule). Participants are also able to receive and return results for MTHFR C677T mutation screening.

Samples are obtained from donors who have previously been screened for hepatitis B surface antigen (HBsAg), and for antibodies to hepatitis C virus and human immunodeficiency virus types 1 and 2 (anti-HIV-1+2).

Participants are requested to provide method details, together with an interpretation of the genotype for each of the samples. 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 within two weeks of the survey closing date.

Survey Reports

Individual survey reports give a breakdown of methods employed and show the genotypes reported by the participant compared to the overall interpretations for the survey. A summary of participant performance is also given. An example report is shown here.

Please note, for MTHFR mutation analysis, the report shows individual interpretation and the overall consensus interpretation. However, performance assessment is not applied, as there is extensive evidence for the lack of clinical utility in performing this test.

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Please Note: Due to the need to arrange donor sessions at the Haemophilia Centre for this programme, we are unable to provide exact distribution dates. However, an email alert will be sent prior to each exercise.

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