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  • Simple search: This screen gives access to lists of expert laboratories through a query by disease name or by gene name/symbol. You may optionally specify the country and the type of quality management (accreditation, EQA) required for the laboratory. Enter your request in the query zone, select additional desired criteria, and click on 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 city: This screen provides access to lists of expert laboratories through a query by disease name or by gene name/symbol restricted to a specific city.
  • Search by 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, select a country in the drop-down list. You may also define the services that the laboratory should provide by clicking the appropriate boxes. You may also restrict your search by medical specialty. The EUGT number is a unique identifier attributed by Orphanet to all registered laboratories.
  • Search by professional: This screen provides access to lists of experts working in laboratories registered with Orphanet for their activity in the field of rare diseases and / or genetic testing. The query can be restricted to a country.

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.

Accréditation
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.

CQE 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.

EuroGentest website

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.