Search for a diagnostic test
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.
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.
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.