| Autor: |
Losekoot, M., Seneca, Sara, Kamarainen, O., Patton, Simon, Stenhouse, S. |
| Přispěvatelé: |
Department of Embryology and Genetics, Reproduction and Genetics |
| Jazyk: |
angličtina |
| Rok vydání: |
2009 |
| Předmět: |
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| Popis: |
Background: The European Molecular Genetics Quality Network (EMQN) has been organizing an annual external quality assessment (EQA) scheme for trinucleotide repeat mutations of Huntington disease since 1997. Proficiency testing aims to measure the quality and raise the standard of routine molecular genetic testing by comparing individual laboratory output to a fixed standard. Participation is anonymous. Methods: Each year, three DNA samples together with mock clinical case descriptions were sent to participating laboratories. Participants were asked to use their routine procedures and protocols to analyze these samples and to report the results and conclusions in their usual laboratory format. A panel of three assessors reviewed the returns to assess the quality of (1) genotyping and (2) interpretation and reporting. Outcome: Each year an increasing number of participants were registered: between 50 and 60 returns were received in each of the 3 last years. In general, the standard of genotyping is high with average scores varying between 1.8 and 1.95 (max 2.00). Scores for interpretation show greater spread, ranging between 1.7 and 1.92. However, after more than 10 years of EQA for HD, the number of diagnostic errors is still unacceptably high (0-6 cases/year). Conclusions: The results of the annual EQA scheme for HD demonstrated a potential level of misdiagnosis (1%-4%) among labs offering molecular testing for HD in a routine setting. Although, a gradual improvement in both genotyping and interpretation, and an increase in standardization in testing and reporting for Molecular genetic testing for HD in Europe were seen, there is still room for progress. This outcome suggests that annual participation for all labs offering HD testing should be mandatory. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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