Knowledge on rare diseases and orphan drugs

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• Procedures: Data collection and registration of diagnostic tests in Orphanet
• Glossary and representation of terms related to diagnostic tests

Orphanet provides information on diagnostic tests able to establish a diagnosis of a rare disease and that need a rare technical competence, or that is the best standard in a given country. Tests should be offered in a clinical setting.

Enter your requested disease name or gene name/symbol to access this information.

The results can be sorted either geographically (by country, region and city, in alphabetical order), or by quality management status*.

Results

You can choose to apply a set of filters to refine your search. More than one filter can be selected:

• - specialty (e.g. molecular genetics, biochemical analysis...)
• - service (e.g. targeted gene test, array test...)
• - purpose (e.g. post-natal diagnosis, newborn screening...)
• - quality management data (accreditation or EQA)*
• - country

Results will show the number of tests in brackets and a clickable list of tests according to the selected filter(s). 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 is too restrictive, and you can click on RESET to go back to the original search page.

*Quality Management:

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.

You can access related Orphanet datasets in an aggregated format through Orphadata after signature of a Data Transfer Agreement/Service Contract (www.orphadata.com).