::Help
- 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, certification, EQA) required for the
laboratory. 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 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 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 restrict your search by medical specialty. 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 by 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 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. The lists are established in collaboration with EuroGentest which is also in charge of validating data on accreditation and on EQA (External Quality Assessment) participation. Data on certification is based on self-reporting of the laboratories. Displayed information is provided by scientists in charge of the diagnostics activities. They must apply to have their laboratory activity listed. Applications are reviewed by a member of the Orphanet scientific advisory board of the country in charge, in the relevant medical 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 has been validated by EuroGentest
before its 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 has been validated by EuroGentest
before its 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.
