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|ISTH e-Newsletter: Factor 8 and Factor 9 International Survey|
International Survey: Practice and Quality Management of Genetic Assays for Haemophilia A and B, from the Factor VIII and Factor IX Subcommittee of the SSCMutation analysis of haemophilia A and haemophilia B is routinely available in many countries and increasingly available internationally. Carrier and prenatal diagnosis by molecular analysis are now standard techniques. Despite the growth in molecular testing there are relatively few guidelines and external quality assurance schemes for the molecular analysis of the Factor VIII and Factor IX genes. This questionnaire is a survey of current practices in laboratories performing molecular diagnosis of Factor VIII and/or Factor IX mutations.
The aim of the survey is to determine current practice, encourage the development of appropriate quality assurance and harmonize current practices especially the reporting of genetic results.
All responses will be treated in the strictest confidence. There is no ‘right’ or ‘wrong’ response; the aim is to capture an overview of the current practice internationally.
Results and feedback will be analyzed and referred to by nation states and countries and not to individual laboratories.
To participate, please click here. We ask that you also forward the link to relevant laboratories if applicable.
Deadline for participation: May 30, 2014.
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