The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)
Joint Authors
Censi, F.
Tosto, F.
Floridia, G.
Marra, M.
Salvatore, M.
Baffico, A. M.
Grasso, M.
Melis, M. A.
Pelo, E.
Radice, P.
Ravani, A.
Rosatelli, C.
Resta, N.
Russo, S.
Seia, M.
Varesco, L.
Falbo, V.
Taruscio, D.
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-01-29
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Since 2001 the Istituto Superiore di Sanità established a quality assurance programme for molecular genetic testing that covers four pathologies: Cystic Fibrosis (CF), Beta Thalassemia (BT), Fragile X Syndrome (FX), and Familial Adenomatous Polyposis Coli (APC).
Since 2009 this activity is an institutional activity and participation is open to both public and private laboratories.
Seven rounds have been performed until now and the eighth is in progress.
Laboratories receive 4 DNA samples with mock clinical indications.
They analyze the samples using their routine procedures.
A panel of assessors review the raw data and the reports; all data are managed through a web utility.
In 2010 the number of participants was 43, 17, 15, 5 for CF, BT, FX, APC schemes respectively.
Genotyping results were correct in 96%, 98.5%, 100%, and 100% of CF, BT, FX, and APC samples, respectively.
Interpretation was correct in 74%, 91%, 88%, and 60% of CF, BT, FX, and APC reports, respectively; however in most of them it was not complete but a referral to genetic counseling was given.
Reports were satisfactory in more than 60% of samples in all schemes.
This work presents the 2010 results in detail comparing our data with those from other European schemes.
American Psychological Association (APA)
Censi, F.& Tosto, F.& Floridia, G.& Marra, M.& Salvatore, M.& Baffico, A. M.…[et al.]. 2013. The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011). BioMed Research International،Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-1005001
Modern Language Association (MLA)
Censi, F.…[et al.]. The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011). BioMed Research International No. 2013 (2013), pp.1-8.
https://search.emarefa.net/detail/BIM-1005001
American Medical Association (AMA)
Censi, F.& Tosto, F.& Floridia, G.& Marra, M.& Salvatore, M.& Baffico, A. M.…[et al.]. The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011). BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-1005001
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1005001