Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001–2009)

Abstract

methods:Individual laboratory responses were analyzed for accuracy of genotype determination (normal, gray zone, premutation, or full mutation) and size analysis of the FMR1 trinucleotide repeat region. The analytical sensitivity and specificity of testing for fragile X were calculated, and laboratory performance for trinucleotide repeat sizing was evaluated.Results: Overall, laboratories demonstrated analytical sensitivity of 99% and 96% for detection of full mutations associated with fragile X syndrome in males and females, respectively; analytical sensitivity of 98% for detection of premutations; and analytical specificity of 99.9%. Size measurements of the CGG repeat region were acceptable from most laboratories, with an increase in the range of reported sizes observed for larger repeat expansions.

Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population

“…The results of this study are consistent with other previously published studies that reviewed similar CAP/ACMG PT results 9,10 and demonstrate that US laboratories provide highquality service for molecular genetic testing. These results should be reassuring to both consumers and public health advocates.…”

Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys

“…Overall, the results of the PT for BRCA1/2 are consistent with similar publications on CAP/ACMG PT results. [7][8][9] These publications illustrate that US molecular genetic laboratories are providing high-quality testing services.…”

Some economics on personalized and predictive medicine

“…The sensitivity and specificity of this test are close to one [24]. The cost of the test is about 50-60 Euros.…”