How this site is organized: Choosing a laboratory
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.
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
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?
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
- 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?
Is the laboratory certified by a an external quality assessment organization for this analysis?
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.