Gerald L Feldman1, Iris Schrijver2, Elaine Lyon3, Glenn E Palomaki4. 1. 1] Department of Pathology, Wayne State University School of Medicine and Detroit Medical Center, Detroit, Michigan, USA [2] Department of Pediatrics, Wayne State University School of Medicine and Detroit Medical Center, Detroit, Michigan, USA [3] Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA. 2. 1] Department of Pathology, Stanford University School of Medicine, Stanford, California, USA [2] Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA. 3. ARUP Laboratories and Department of Pathology, University of Utah, Salt Lake City, Utah, USA. 4. Department of Pathology and Laboratory Medicine, Women & Infants Hospital, Alpert School of Medicine at Brown University, Providence, Rhode Island, USA.
Abstract
PURPOSE: The purpose of this study was to determine analytic performance of laboratories offering molecular testing for conditions such as Tay-Sachs disease, Canavan disease, and familial dysautonomia, which are prevalent in the Ashkenazi Jewish population. METHODS: The College of American Pathologists and the American College of Medical Genetics and Genomics cosponsor molecular proficiency testing for these disorders. Responses from 2006 to 2013 were analyzed for accuracy (genotyping and interpretations). RESULTS: Between 11 and 36 laboratories participated in each Tay-Sachs disease distribution. Samples tested per month were constant (2,900) from 2006 to 2011 but recently increased. Participants reporting <10 samples tested per month had longer turnaround times (42 vs. 7%, longer than 14 days; P = 0.03). Analytic sensitivity and specificity for US participants were 97.2% (95% confidence interval: 94.7-98.7%) and 99.8% (95% confidence interval: 99.1-99.9%), respectively. Of 11 genotyping errors, 2 were due to sample mix-up. Analytic interpretations were correct in 99.3% of challenges (956/963; 95% confidence interval: 98.5-99.7%). Better performance was found for Canavan disease and familial dysautonomia. International laboratories performed equally well. CONCLUSION: These results demonstrated high analytic sensitivity and specificity along with excellent analytic interpretation performance, confirming the genetics community impression that laboratories provide accurate test results in both diagnostic and screening settings. Proficiency testing can identify potential laboratory issues and helps document overall laboratory performance.
PURPOSE: The purpose of this study was to determine analytic performance of laboratories offering molecular testing for conditions such as Tay-Sachs disease, Canavan disease, and familial dysautonomia, which are prevalent in the Ashkenazi Jewish population. METHODS: The College of American Pathologists and the American College of Medical Genetics and Genomics cosponsor molecular proficiency testing for these disorders. Responses from 2006 to 2013 were analyzed for accuracy (genotyping and interpretations). RESULTS: Between 11 and 36 laboratories participated in each Tay-Sachs disease distribution. Samples tested per month were constant (2,900) from 2006 to 2011 but recently increased. Participants reporting <10 samples tested per month had longer turnaround times (42 vs. 7%, longer than 14 days; P = 0.03). Analytic sensitivity and specificity for US participants were 97.2% (95% confidence interval: 94.7-98.7%) and 99.8% (95% confidence interval: 99.1-99.9%), respectively. Of 11 genotyping errors, 2 were due to sample mix-up. Analytic interpretations were correct in 99.3% of challenges (956/963; 95% confidence interval: 98.5-99.7%). Better performance was found for Canavan disease and familial dysautonomia. International laboratories performed equally well. CONCLUSION: These results demonstrated high analytic sensitivity and specificity along with excellent analytic interpretation performance, confirming the genetics community impression that laboratories provide accurate test results in both diagnostic and screening settings. Proficiency testing can identify potential laboratory issues and helps document overall laboratory performance.
Authors: Devin Oglesbee; Tina M Cowan; Marzia Pasquali; Timothy C Wood; Karen E Weck; Thomas Long; Glenn E Palomaki Journal: Genet Med Date: 2017-06-29 Impact factor: 8.822
Authors: Ruth E Timme; Hugh Rand; Maria Sanchez Leon; Maria Hoffmann; Errol Strain; Marc Allard; Dwayne Roberson; Joseph D Baugher Journal: Microb Genom Date: 2018-06-15
Authors: Ruth E Timme; Patricia C Lafon; Maria Balkey; Jennifer K Adams; Darlene Wagner; Heather Carleton; Errol Strain; Maria Hoffmann; Ashley Sabol; Hugh Rand; Rebecca Lindsey; Deborah Sheehan; Joseph D Baugher; Eija Trees Journal: Sci Data Date: 2020-11-19 Impact factor: 6.444