Italian External Quality Assessment of Genetic Testing

Istituto Superiore di Sanità

Genetic tests

Published 14/02/2020 - Edited 05/01/2022

By genetic test we mean the analysis of DNA, RNA, chromosomes, metabolites and other gene products, carried out to highlight alterations related to hereditary diseases.

This definition includes prenatal, neonatal and healthy carrier screenings as well as testing of at-risk families.

The results of genetic tests can be applied to the diagnosis and prognosis of hereditary diseases, disease risk prediction, identification of healthy carriers, phenotype (clinical manifestations of the disease) - genotype (genetic characteristics of an individual) correlation. To date, more than 1000 genetic tests are available. Tests carried out only for research purposes are excluded from this definition.

Back Italian External Quality Assessment of Genetic Testing

Published 05/02/2015 - Edited 03/08/2022

The Italian External Quality Control ogf Genetic Testing (EQA) i san Institutional activity founded in 2000 as a research project. Since 2009, the laboratory pay a fee to participate (Official bulletin G.U. Serie Generale n.199 del 28/08/2009 con successivo aggiornamento in G.U. Serie Generale n. 82 del 09/04/2015).

The ISS is identify as the national provider in the official document “Guidelines for Medical Genetic activities- Conferenza Stato Regione 15/07/2004. The activity is carried out in collaboration with ational experts belonging to national and international scientific societies. TO date, three macro-areas are actives and the following schemes are offered to national laboratory:

Molecular genetic: