Italian External Quality Assessment of Genetic Testing

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:

• Cystic Fibrosis
• Beta Thalassemia
• Fragile X-Syndrome prescreening scheme
• Fragile X-Syndrome Full Scheme

Citogenetyc analysis:

• Prenatal Citogenetyc analysis
• Postnatal Citogenetyc analysis
• Oncological Citogenetyc analysis

Molecular Oncology:

• Adenomatous Polyposis Coli (APC e MUTYH genes)
• Hereditary breast and ovarian cancer (BRCA1 e BRCA2 genes)
• Lynch Syndrome (MLH1, MSH2 e MSH6 genes)

For more information visit the Italian website: www.ceqtestgenetici.it