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Site Organization

How this site is organized: Choosing a laboratory

This site is organized around the principle of simplifying the investigation procedure for finding diagnostic testing for rare genetic diseases. For many rare genetic diseases, finding a laboratory which provides diagnostic analysis can be very difficult. In many instances, there may be only a single laboratory in Europe providing the desired service.

In the event that there is more than one laboratory, we have attempted to provide additional information to enable one to make a more educated decision about where to have testing done. The following factors should be noted and considered:

National Certification: In some European countries, a laboratory can be certified by a governmental body to perform mutation analysis or other sorts of DNA-based analyses.

Test Congruence: Several factors should be considered in order to ascertain the congruence of what a laboratory is offering to the specific clinical need. For example:

  • Is the test methodology well-suited to the purpose of testing?
  • Is the laboratory assessing the gene in which you are interested?
  • Does the laboratory accept samples from foreign countries?
  • What is the turn-around time for the test (i.e. prenatal diagnosis)? If it is urgent, can the laboratory perform the test within the required time-frame?
  • What is the cost of the testing and will it be reimbursed by insurance in your country?

Experience & Peer Recognition:
What is the laboratory's experience with a test?
Is the laboratory's research published in the medical literature?

Quality Assessment:
Is the laboratory certified by a an external quality assessment organization for this analysis?

Warning: Because inclusion is on a strictly voluntary basis, the directory cannot claim to provide an accurate representation of the genetic testing available in a certain region or country. In addition, a laboratory chooses which information to provide to EDDNAL; just because information is not listed does not mean that it does not exist.