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Orphanet provides information on laboratories able to establish a diagnosis of a rare disease and that provide a rare technical competence, or the best standard in a given country.
You can choose to apply a set of filters to refine your search:
- - 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 will display the number of medical laboratories available, in brackets.
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.
Data collection takes place in Orphanet Consortium countries and is currently ongoing. The database cannot yet be regarded as comprehensive. If a 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.
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.