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

Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists

“…Previous publications have analyzed CAP/ACMG PT data for a variety of molecular genetic tests, including microsatellite instability, Tay-Sachs disease, Canavan disease, familial dysautonomia, BRCA1/2, pharmacogenetic analytes, Huntington disease, cystic fibrosis, fragile X syndrome, and other rare inherited disorders. 14,15,[22][23][24][25][26][27] Other publications have examined cystic fibrosis molecular testing in both the United States and Italy. 28,29 All of these publications indicate that molecular genetic tests have excellent analytic performance, with an overall sensitivity greater than 95% and specificity greater than 99%.…”

“…[30][31][32][33][34][35][36] Prior publications have also documented findings analogous to this study concerning a higher variability in interpretive (compared with analytical) performance, with interpretive accuracy rates ranging from 92.5% for BRCA1/2 (ref. 25) to 99.7% for familial dysautonomia. 23 Our findings for HFE are consistent with these results, with respect to both analytic and interpretive performance.…”

A panoramic view of the accuracy of molecular genetic testing

“…The paper by Richards et al, "Results From an External Proficiency Testing Program: Eleven Years of Molecular Genetics Testing for Myotonic Dystrophy Type 1, " 1 is the latest in a series of articles in this journal summarizing the performance of laboratories engaged in the College of American Pathologists (CAP) proficiency testing (PT) surveys. [1][2][3][4][5][6][7][8] In each of these articles, approximately 10 years of PT data were analyzed for overall performance by molecular genetics laboratories and for global performance over time; these data were not provided to individual participating laboratories and are not available outside of these publications. It is not feasible to publish all PT survey data at once because there are so many data points to analyze and there are different aspects that are important to address for each clinical disease/test.…”

“…9 The joint CAP/ACMG Biochemical and Molecular Genetics (BMG) committee oversees the CAP PT surveys for molecular genetic testing and has worked to summarize the longitudinal data from the PT surveys for seven of the most commonly tested genetic diseases and for methodsbased PT for Sanger sequencing. [1][2][3][4][5][6][7][8] The data from individual rounds of PT, which are offered two times per year, are not made publicly available by CAP, except to laboratories enrolled in their PT programs.…”

A BRCA1 és BRCA2 gének tumorevolúcióban szerepet játszó mutációinak vizsgálata

“…Pozitív eredmény esetén ezért minden alkalommal Sanger szekvenálással történő megerősítésre volt szükség. Később már egyre jobban elterjedt az előszűrés nélküli direkt szekvenálás gyakorlata [92]. A kapilláris, vagy Sanger szekvenálás a mai napig a mutációk azonosításának "gold-standard"-ja a molekuláris diagnosztikában, mely alkalmas báziscserék, illetve kisebb Indelek kimutatására [93,94].…”