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Procedures: Data collection and registration of diagnostic tests in Orphanet

Glossary and representation of terms related to diagnostic tests

Orphanet provides information on diagnostic tests able to establish a diagnosis of a rare disease and that need a rare technical competence, or that is the best standard in a given country. Constitutional genetic tests are also registered for non-rare diseases, for diseases with a genetic susceptibility and for pharmacogenetics. Tests should be offered in a clinical setting.

Enter your requested disease name or gene name/symbol to access this information.

The results can be sorted either geographically (by country, region and city, in alphabetical order), or by specificity (from those more focused on a particular disease to those specialised in a group of diseases including the disease you were looking for).

Results

You can refine your search using the following set of filters:

• - specialty (e.g. molecular genetics, cytogenetics)
• - objective (e.g. targeted mutation analysis, methylation analysis)
• - technique (e.g. Sanger sequencing, PCR based techniques)
• - purpose (e.g. antenatal diagnosis, pharmacogenetics)
• - quality management data (accreditation or EQA)
• - country

Each option displays the number of tests available, in brackets. Click on a specific diagnostic test in the results list to have more details including the laboratories where the test is being performed. Click here to access the technical procedure details with a complete glossary of all terms used.

It is possible to select several criteria at once. Once the choice is made, click on OK to filter the data according to an AND filter. This means that the results will need to match all of the criteria selected. The maximum number of results is 400; if you exceed this limit you should narrow down your search. If you obtain 0 results, your search is too restrictive, and you can click on RESET to go back to the original search page.

Accreditation is a formal recognition of a technical competence to perform specific types of testing by complying with specific management and technical requirements.

EQA (External Quality Assessment) is a system of objectively assessing the laboratory’s performance by an external agency (known as EQA providers) through the comparison of the laboratory’s performance against an agreed independent standard. Information on EQA participation is yearly provided by Cystic Fibrosis European Network, Genomics Quality Assessment (GenQA) and the European Molecular Genetics Network (EMQN) with the consent of the concerned laboratories.

You can access related Orphanet datasets in an aggregated format through Orphadata after signature of a Data Transfer Agreement/Service Contract.