EQA – THE IMPORTANCE FOR THE CITIZEN

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 EQA – THE IMPORTANCE FOR THE CITIZEN

Published 31/10/2014 - Edited 03/08/2022

Externa Quality Assessement: The importance for the citizen

The result of genetic test does not change over individual’s life; it can have consequences on the life choices of patients and family members. It is essential that laboratories perform tests at high quality standards, with reliable and clear results. Monitoring the quality of the laboratoiest is an obligation for the National Health System, for the protection of citizens’health.

The External Quality Assessment (EQA) programmes represent and objective system for assessing the performance of the laboratory carried out by external body; it is a valuable tool both for the laboratory and for the National Health System. The ISS is identify as the national provider (guidelines for Medical Genetic activities- Conferenza Stato Regione 15/07/2004).

All information relatinf to the Italian EQA for genetic test can be viewed at the Italian website www.ceqtestgenetici.it

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