- Simple search: This screen provides access to a list of diagnostic tests through a search by disease name or by gene name/symbol. You may use truncated names. Enter your request in the search zone, select a disease name or gene name/symbol and click on OK to validate. A list of all names matching your query will appear. Select the one of interest to you in order to obtain the list of tests.
The list of tests is sorted by quality management data and is preceded by a set of filters that you can use to refine the results. The filters include the following criteria: specialty (molecular genetics, cytogenetics...), objective (targeted mutation analysis, methylation analysis...), technique (Sanger sequencing, PCR based techniques...), purpose (antenatal diagnosis, pharmacogenetics...), quality management data (these data represent laboratories having an accreditation or having participated in at least one EQA, not necessarily related to the disease searched), and country. Each option displays the number of tests available, in brackets.
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 was too restrictive, and you can click on RESET to go back to the original search page.
The results can equally be sorted by geographical location.
Click here to access the technical procedure details with and a complete glossary of all terms used.
Medical laboratories listed in Orphanet are those offering tests for the diagnosis of a rare disease or a group of rare diseases, and those performing genetic testing whatever the prevalence of the disease. Displayed information is provided by scientists in charge of the diagnostics activities. They must apply to have their laboratory activity listed.
Review of applications and validation of submitted information are under the supervision of the Orphanet country coordinator.
Information on accreditation of medical laboratories is reviewed by Eurogentest and experts in the field.
Information on EQA participation is yearly provided by CF Network, CEQA and EMQN with the consent of the concerned laboratories. For other EQA providers, information is validated by Orphanet upon reception of an EQA participation certificate; otherwise the information provided on the Orphanet website is deemed ‘not validated’ and associated with a * sign.
Accreditation is a “procedure by which an authoritative body gives formal recognition that a body or person is competent to carry out specific tasks” (ISO 9000, 2000 Quality management systems – fundamentals and vocabulary).
Accreditation standards related to medical laboratories (for example, ISO15189) place emphasis on having an effective quality assurance system in place, on a commitment to meeting needs of patients and their doctors as users of laboratory services and a need for continuous cycle of quality improvement at the centre of all policy making a operational decisions.
EQA (External Quality Assessment, also known as proficiency testing) is “a system whereby a set of reagents and techniques are assessed by an external source and the results of the testing laboratory are compared with those of an approved reference laboratory” (WHO). It allows a laboratory to compare its performance for an individual test or technique against that of other laboratories.
It is recommended not to ask for very large lists as the number of possible results is voluntarily limited to protect the database from abuses.
In case you wish to obtain large datasets, please ask Orphanet to do the data extraction for you.
Data collection takes place in European and surrounding countries and is currently ongoing. The database cannot yet be regarded as comprehensive. If an expert clinical laboratory is not listed in a region or a country, it may not have been identified or the laboratory may have refused to be listed. It is also possible that diagnostic testing facilities do not yet exist for all rare diseases or in every region.
Orphanet aims to provide rare disease information to healthcare professionals, patients, and their relatives, in order to contribute improving the diagnosis, care and treatment of these diseases. Information in Orphanet is not intended to replace professional health care.
Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information found in the Orphanet database.