Back to Search
Start Over
Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.
- Source :
-
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2009 May; Vol. 11 (3), pp. 211-5. Date of Electronic Publication: 2009 Mar 26. - Publication Year :
- 2009
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 1943-7811
- Volume :
- 11
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- The Journal of molecular diagnostics : JMD
- Publication Type :
- Academic Journal
- Accession number :
- 19324992
- Full Text :
- https://doi.org/10.2353/jmoldx.2009.080106