JMD GMP oligos for in vitro Diagnostics
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Originally published online as doi:10.2353/jmoldx.2009.080106 on March 26, 2009

Published online before print March 26, 2009
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Journal of Molecular Diagnostics 2009, Vol. 11, No. 3
Copyright © 2009 American Society for Investigative Pathology & Association for Molecular Pathology
DOI: 10.2353/jmoldx.2009.080106

Identification of Cystic Fibrosis Variants by Polymerase Chain Reaction/Oligonucleotide Ligation Assay

Karen M. Schwartz*, Lisa L. Pike-Buchanan*, Kasinathan Muralidharan*, Joy B. Redman{dagger}, Jean Amos Wilson{ddagger}, Michael Jarvis{ddagger}, M. Grace Cura* and Victoria M. Pratt*

From Quest Diagnostics, * Chantilly, Virginia; Quest Diagnostics, {dagger} San Juan Capistrano, California; and Focus Diagnostics, {ddagger} Cypress, California

The purpose of this work is to define rare variants of cystic fibrosis (CF) that are potential sources of error and can confound molecular genetic testing methods. We performed routine, clinical CF mutation screening using a laboratory-developed test and the oligonucleotide ligation assay reagents from Abbott/Celera. In this report, we describe 11 unique allele drop outs [3849 + 10kb C>T (NM_000492.2:c.3718-2477C>T), V520F (c.1558G>T), 1078delT (c.948delT), A455E (c.1364C>A), R347P (c.1040G>C), 2184delA (c.2052delA), W1282X (c.3846G>A), R117H (c.350G>A), G85E (c.254G>A), 621 + 1G>T (c.489 + 1G>T), and 2789 + 5G>A (c.2657 + 5G>A)] observed with this platform. The allele drop outs account for less than 0.01% of all results reported in our laboratory. Both the recognition and enumeration of such variants along with clinical information in CF testing is valuable in avoiding false-positive and false-negative results.


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Cystic Fibrosis Testing Comes of Age
Wayne W. Grody
J. Mol. Diagn. 2009 11: 173-175. [Abstract] [Full Text] [PDF]



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W. W. Grody
Cystic Fibrosis Testing Comes of Age
J. Mol. Diagn., May 1, 2009; 11(3): 173 - 175.
[Abstract] [Full Text] [PDF]


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Copyright © 2009 by the American Society for Investigative Pathology and the Association for Molecular Pathology.