The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience.
Familial adenomatous polyposis is a rare autosomal dominant inherited disease (incidence, 1/8000). More than 90% of families affected by familial adenomatous polyposis have a mutation in the tumor suppressor gene adenomatous polyposis coli (APC). Mutations in this gene are characterized by 100% penetrance, although there is a variation in phenotypic expression of the disease. According to a 2004 survey of the Italian Human Genetic Society, about 264 APC gene molecular genetic tests were performed by Italian laboratories per year. The Italian External Quality Assessment (IEQA), financially supported by the Ministry of Health and coordinated by the Istituto Superiore di Sanità, was started in 2000 to improve the quality of molecular genetic tests in Italy. In the frame of the IEQA, about 50% of public laboratories performing APC gene tests have been monitored. The number of responding public laboratories during the 5 years was 6, 7, 7, 7, and 5 from 2001 to 2006, respectively; on average, 96.3% of samples completely analyzed were correctly genotyped. Methods used by laboratories to detect mutation were direct sequencing, single-strand conformation polymorphism, protein truncation test, and denaturing high-performance liquid chromatography. Written reports were not homogeneous among laboratories, although a new form of written report was proposed to laboratories in 2004. It will be interesting to monitor the effects of the reporting model and the output of this educational action in the future.
National Centre for Rare Diseases-Istituto Superiore di Sanità, Rome, Italy.
Federica
F
Censi
Vincenzo
V
Falbo
Giovanna
G
Floridia
Marco
M
Salvatore
Fabrizio
F
Tosto
Marina
M
De Rosa
Nicoletta
N
Resta
Paola
P
Izzo
Ginevra
G
Guanti
Domenica
D
Taruscio
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis / Q000379:methods / Q000592:standards; D003625:Data Collection; D016368:Frameshift Mutation; D017491:Genes, APC; D005820:Genetic Testing / Q000379:methods / Q000592:standards*; D006077:Government Agencies; D006801:Humans; D007558:Italy; D007753:Laboratories / Q000592:standards; D009154:Mutation; D011786:Quality Control
D018389:Codon, Nonsense