::Help
- Simple search: This screen gives access to lists of expert laboratories through a query by disease name or by gene symbol. You may specify the country and the type of quality management (accreditation, certification, EQA) required for the laboratory, but this is optional. Enter your request in the query zone, select additional desired criteria, then click OK to validate.
You may use truncated names. A list of all names matching your query will appear. Select the one of interest to you. - Search by region: This screen gives access to lists of testing laboratories through a query by disease name or by gene name restricted to a geographical area. You must select a country and a region (among the lists provided). The country must be selected first.
- Search by city: This screen provides access to lists of expert laboratories through a query by disease name or by gene name restricted to a specific city.
- Search a laboratory: This screen provides access to lists of expert laboratories through a query by laboratory or institution name or EUGT number, optionally restricted to a geographical area. To define the area you must select a country (among the list provided) and a city by entering its name. The country has to be selected first. You may also define the services that the laboratory should provide by clicking the appropriate boxes.
You may also query a laboratory speciality (instead of a laboratory name). The EUGT number is a unique identifier attributed by Orphanet to all registered laboratories which is used by EuroGentest for managing the quality data. - Search a professional: This screen provides access to lists of experts working in laboratories registered with Orphanet for their activity in the field of rare disease and / or genetic testing. The query can be restricted to a country.
Clinical laboratories listed in Orphanet are those offering a test for the diagnosis of a rare disease or of a group of rare diseases and those performing genetic testing whatever the prevalence of the disease. The lists are established in collaboration with EuroGentest which is also in charge of the validation of the data on accreditation and on EQA (External Quality Assessment) of the laboratories. Data on certification are based on self-reporting of the laboratories.
The information which is displayed is provided by the scientists in charge of the activities. They must apply to have their laboratory activity listed. The applications are reviewed by the member of the Orphanet scientific advisory board of the country in charge of the relevant specialty.
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 clinical 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. Data on accreditation have been validated by EuroGentest before their release on Orphanet.
Certification is a procedure by which a third party gives written assurance that a product, process or service conforms to specific requirements. (ISO 9000, 2000 Quality management systems – fundamentals and vocabulary).
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. Data on EQA participation have been validated by EuroGenTest before their release on Orphanet.
Licencing is a legal permit or formal permission from a constituted authority or governmental agency to operate a laboratory. It may involve documenting the existence, institutional accountability and the activities of the facility, for example, the type of service provided. In return the laboratory is officially registered and may be publicly listed.
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.
::Warning
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.
