CEQ test genetici
National centres and Reference centres
National centre for Rare diseases
Genetic testing is conducted on any or all genetic components including DNA, RNA, chromosomes, metabolites and other gene products, carried out to highlight changes related to genetic disorder. This definition includes prenatal, neonatal and postnatal screening.
Results of genetic test contribute to define the diagnosis, prognosis of hereditary diseases, and predict disease risk; it allow the identification of healthy carriers in families at risk, and the phenotype –genotype correlation. To date, more than 1000 genetic tests are available; Tests for research purposes are excluded from this definition.
Since 2001, the Istituto Superiore di Sanità has been entrust with the National program of External Quality Assessment (EQA) of genetic tests, open to all laboratories that perform genetic tests on the national territory. To date, 9 different schemes with an annual timing are offered.
The main objectives of this program is to ensure and standardize the quality of genetic tests, and interpretation of their results, to guarantee the health of the citizen
For updates on the status of the EQA rounds of genetic test, visit the Italian website: www.ceqtestgenetici.it
To register EQA schemes and/or information click here: Iscriviti qui
To access the riserved area of laboratorory click here : ISS - CEQ - Area riservata
