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A more recent version of this article appeared on May 1, 2009

Published online before print April 9, 2009
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Copyright © 2009 American Society for Investigative Pathology
Journal of Molecular Diagnostics, doi:10.2353/jmoldx.2009.080149

Accepted for publication December 29, 2008.

Article

Development of Genomic Reference Materials for Cystic Fibrosis Genetic Testing

Victoria M. Pratt*@, Michele Caggana{dagger}, Christina Bridges{ddagger}, Arlene M. Buller{sect}, Lisa DiAntonio{dagger}, W. Edward Highsmith, Leonard M. Holtegaard, Kasinathan Muralidharan*, Elizabeth M. Rohlfs||, Jack Tarleton{ddagger}, Lorraine Toji**, Shannon D. Barker{dagger}{dagger}, and Lisa V. Kalman{dagger}{dagger}

From Quest Diagnostics,* Nichols Institute, Chantilly, Virginia; the Wadsworth Center,{dagger} New York State Department of Health, Albany, New York; Fullerton Genetics,{ddagger} Asheville, North Carolina; Quest Diagnostics,{sect} Nichols Institute, San Juan Capistrano, California; the Mayo Clinic, Rochester, Minnesota; Genzyme Corporation,|| Westborough, Massachusetts; the Coriell Institute for Medical Research,** Camden, New Jersey; and the Centers for Disease Control and Prevention,{dagger}{dagger} Atlanta, Georgia

@ To whom correspondence should be addressed. E-mail: Victoria.m.pratt{at}questdiagnostics.com.


  Abstract

The number of different laboratories that perform genetic testing for cystic fibrosis is increasing. However, there are a limited number of quality control and other reference materials available, none of which cover all of the alleles included in commercially available reagents or platforms. The alleles in many publicly available cell lines that could serve as reference materials have neither been confirmed nor characterized. The Centers for Disease Control and Prevention-based Genetic Testing Reference Material Coordination Program, in collaboration with members of the genetic testing community as well as Coriell Cell Repositories, have characterized an extended panel of publicly available genomic DNA samples that could serve as reference materials for cystic fibrosis testing. Six cell lines [containing the following mutations: E60X (c.178G>T), 444delA (c.312delA), G178R (c.532G>C), 1812–1G>A (c.1680–1G>A), P574H (c.1721C>A), Y1092X (c.3277C>A), and M1101K (c.3302T>A)] were selected from those existing at Coriell, and seven [containing the following mutations: R75X (c.223C>T), R347H (c.1040G>A), 3876delA (c.3744delA), S549R (c.1646A>C), S549N (c.1647G>A), 3905insT (c.3773_3774insT), and I507V (c.1519A>G)] were created. The alleles in these materials were confirmed by testing in six different volunteer laboratories. These genomic DNA reference materials will be useful for quality assurance, proficiency testing, test development, and research and should help to assure the accuracy of cystic fibrosis genetic testing in the future. The reference materials described in this study are all currently available from Coriell Cell Repositories.


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