The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model

Journal of Molecular Diagnostics

Volumn 12, Issue 5, 2010, Pages 611-619

  Farkas, Daniel H ^a   Miltgen, Nicholas E ^a   Stoerker, Jay ^b   Van Den Boom, Dirk ^c   Highsmith, W Edward ^d   Cagasan, Lesley ^c   McCullough, Ron ^c   Mueller, Reinhold ^c   Tang, Lin ^c   Tynan, John ^c   Tate, Courtney ^e   Bombard, Allan ^c  

^a Sequenom Center for Molecular Medicine   (United States)

^b Sequenom Center for Molecular Medicine   (United States)

^c SEQUENOM INC   (United States)

^d MAYO CLINIC   (United States)

^e Osmetech Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; GENOMIC DNA;

ARTICLE; CFTR GENE; CONTROLLED STUDY; CYSTIC FIBROSIS; DISEASE CARRIER; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC SCREENING; LABORATORY TEST; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MULTIPLEX POLYMERASE CHAIN REACTION; NONHUMAN; SHRIMP; VALIDATION PROCESS;

EID: 77956819100     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2010.090233     Document Type: Article

References (23)

1. Kan YW, Dozy AM: Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci USA 1978, 75:5631-5635
2. Arnold A, Cossman J, Bakhshi A, Jaffe ES, Waldmann TA, Korsmeyer SJ: Immunoglobulin-gene rearrangements as unique clonal markers in human lymphoid neoplasms. N Engl J Med 1983, 309:1593-1599
3. Hirst MC, Nakahori Y, Knight SJL, Schwartz C, Thibodeau SN, Roche A, Flint TJ, Connor JM, Fryns J-P, Davies KE: Genotype prediction in the Fragile X syndrome. J Med Genet 1991, 28:824-829
4. Tsilfidis C, MacKenzie AE, Mettler G, Barcelo J, Korneluk RG: Correlation between CTG trinucleotide repeat length and frequency of severe congenial myotonic dystrophy. Nat Genet 1992, 1:192-195
5. Schachter J, Stamm WE, Quinn TC, Andrews WW, Burczak JD, Lee HH: Ligase chain reaction to detect Chlamydia trachomatis infection of the cervix. J Clin Microbiol 1994, 32:2540-2543
6. Ferreira-Gonzalez A, Garrett CT: Laboratory-developed tests in molecular diagnostics. Molecular Diagnostics for the Clinical Laboratorian. Edited by WB Coleman, GJ Tsongalis. Totowa, NJ, Humana Press Inc. 2006, pp 247-256
7. Jennings L, Van Deerlin VM, Gulley ML; for the College of American Pathologists Molecular Pathology Resource Committee: Recommended principles and practices for validating clinical molecular pathology tests. Arch Pathol Lab Med 2009, 133:743-755
8. MacConaill LE, Catarina D, Campbell D, Kehoe SM, Bass AJ, Hatton C, Niu L, Davis M, Yao K, Hanna M, Mondal C, Luongo L, Emery CM, Baker AC, Philips J, Goff DJ, Fiorentino M, Rubin MA, Polyak K, Chan J, Wang Y, Fletcher JA, Santagata S, Corso G, Roviello F, Shivdasani R, Kieran MW, Ligon KL, Stiles CD, Hahn WC, Meyerson ML, Garraway LA: Profiling critical cancer gene mutations in clinical tumor samples. PLoS One 2009, 4:e7887
9. Schrijver I, Oitmaa E, Metspalu A, Gardner P: Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations. J Mol Diagn 2005, 7:375-387 (Pubitemid 41149653)
10. Thongnoppakhun W, Jiemsup S, Yongkiettrakul S, Kanjanakorn C, Limwongse C, Wilairat P, Vanasant A, Rungroj N, Yenchitsomanus P-t: Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations. J Mol Diagn 2009, 11:334-346
11. Torella A, Trimarco A, del Vecchio Blanco F, Cuomo A, Aurino S, Piluso G, Minetti C, Politano L, Nigro V: One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography. J Mol Diagn 2010, 12:65-73
12. Grody WW, Cutting GR, Watson MS: The Cystic Fibrosis mutation "arms race": when less is more. Genet in Med 2007, 9:739-744
13. Grody WW: Cystic fibrosis testing comes of age. J Mol Diagn 2009, 11:173-175
14. Heim RA, Sugarman EA, Allitto BA: Improved detection of cystic fibrosis mutations in the heterogeneous US population using an expanded, pan-ethnic, mutation panel. Genet in Med 2001, 3:168-176
15. US Food and Drug Administration: Design control guidance for medical device manufacturers (guidance relates to FDA 21 CFR 820.30 and sub-clause 4.4 of ISO 9001). 1997, 7-45
16. Dörk T, Macek Jr M, Mekus F, Tümmler B, Tzountzouris J, Casals T, Krebsová A, Koudová M, Sakmaryová I, Macek Sr M, Vávrová V, Zemková D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zékanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz HH, Neumann T, Jakubiczka S, Kraus C, Thamm B, Nechiporenko M, Livshits L, Mosse N, Tsukerman G, Kadási L, Ravnik-Glavac M, Glavac D, Komel R, Vouk K, Kucinskas V, Krumina A, Teder M, Kocheva S, Efremov GD, Onay T, Kirdar B, Malone G, Schwarz M, Zhou Z, Friedman KJ, Carles S, Claustres M, Bozon D, Verlingue C, Férec C, Tzetis M, Kanavakis E, Cuppens H, Bombieri C, Pignatti PF, Sangiuolo F, Jordanova A, Kusic J, Radojkovic D, Sertic J, Richter D, Stavljenic-Rukavina A, Bjorck E, Strandvik B, Cardoso H, Montgomery M, Nakielna B, Hughes D, Estivill X, Aznarez I, Tullis E, Tsui L-C, Zielenski J: Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet 2000, 106:259-268
17. Seaton BL: Verification of molecular assays. Molecular Diagnostics for the Clinical Laboratorian. Edited by WB Coleman, GJ Tsongalis. Totowa, NJ, Humana Press Inc. 2006, pp 237-241
18. Stoerker J, Tynan J, Cagasan L: Use of the MassARRAY mass spectrometry platform for high-throughput and accurate detection of a 105 member cystic fibrosis-causing mutation panel (Abstract). J Mol Diagn 2009, 11:619
19. Stemke-Hale K, Gonzalez-Angulo A, Lluch A: An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. Cancer Res 2008, 68:6084-6091
20. Van Puijenbroek M, Dierssen J, Stanssens P: Mass spectrometry-based loss of heterozygosity analysis of single-nucleotide polymorphism loci in paraffin embedded tumors using the MassEXTEND assay. J Mol Diagn 2005, 7:623-630
21. Thomas R, Baker A, DeBiasi R: High-throughput oncogene mutation profiling in human cancer. Nat Genet 2007, 39:347-351
22. Dunlap J, Le C, Shukla A, Patterson J, Presnell A, Heinrich MC, Corless CL, Troxell ML: Phosphatidylinositol-3-kinase and AKT1 mutations occur early in breast carcinoma. Breast Cancer Res Treat 2010, 120(2):409-418
23. Quek TPL, Yan B, Yong WP, Salto-Tellez M: Targeted therapeutics-oriented tumor classification: a paradigm shift. Personalized Med 2009, 6(5):465-468