A universal array-based multiplexed test for cystic fibrosis carrier screening

Expert Review of Molecular Diagnostics

Volumn 6, Issue 1, 2006, Pages 15-22

  Amos, Jean A ^a   Bridge Cook, Philippa ^b   Ponek, Victor ^c   Jarvis, Michael R ^a  

^a Focus Diagnostics Inc   (United States)

^b Scientific Insights Consulting Group Inc   (Canada)

^c Specially Laboratories Inc   (United States)

Author keywords

Carrier screening; CFTR mutations; Cystic fibrosis conductance regulator; Luminex; Molecular diagnosis; TagIt

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ASSAY; CYSTIC FIBROSIS; ETHNIC GROUP; GENE MUTATION; GENOTYPE; HETEROZYGOTE DETECTION; HUMAN; REVIEW; SCREENING;

CELL MEMBRANE; CYSTIC FIBROSIS; GENETIC SCREENING; GENETIC TESTING; HETEROZYGOTE; HUMANS; MICROARRAY ANALYSIS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION;

EID: 33645331588     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.6.1.15     Document Type: Review

References (15)

1. Hamosh A, FitzSimmons SC, Macek M Jr, Knowles MR, Rosenstein BJ, Cutting GR. Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J. Pediatr. 132(2), 255-259 (1998).
2. Grody WW, Cutting GR, Klinger KW et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet. Med. 3(2), 149-154 (2001). Recommendations developed by the American College of Medical Genetics and American College of Obstetricians and Gynecologists.
3. Watson MS, Cutting GR, Desnick RJ et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet. Med. 6(5), 387-391 (2004).
4. Strom CM, Crossley B, Redman JB et al. Cystic fibrosis screening: lessons learned from the first 320,000 patients. Genet. Med. 6(3), 136-140 (2004).
5. Janeczko R. Current methods for cystic fibrosis mutation detection. Advance Newsmagazines: Advance for Administrators of the Laboratory 13(4), 56-62 (2004).
6. Richards CS, Grody WW. Prenatal screening for cystic fibrosis: past, present and future. Expert Rev. Mol. Diagn. 4(1), 49-62 (2004). Review of clinical and technical aspects of cystic fibrosis carrier screening.
7. Bortolin S, Black M, Modi H et al. Analytical validation of the Tag-It high-throughput microsphere-based universal array genotyping platform: application to the multiplex detection of a panel of thrombophilia-associated single-nucleotide polymorphisms. Clin. Chem. 50(11), 2028-2036 (2004).
8. Farrell MH, Farrell PM. Newborn screening for cystic fibrosis: ensuring more good than harm. J. Pediatr. 143(6), 707-712 (2003).
9. Sugarman EA, Rohlfs EM, Silverman LM, Allitto BA. CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genet. Med. 6(5), 392-399 (2004).
10. Buyse IM, McCarthy SE, Lurix P et al. Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation. Genet. Med. 6(5), 426-30 (2004).
11. Heim RA, Sugarman EA, Allitto BA. Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel. Genet. Med. 3(3), 168-176 (2001).
12. Schrivjer 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. 7(3), 375-387 (2005).
13. Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K. Tay-Sachs disease-carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA 270(19), 2307-2315 (1993).
14. Palomaki GE, FitzSimmons SC, Haddow JE. Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. Genet. Med. 6(5), 405-414 (2004).
15. Palomaki GE. Prenatal screening for cystic fibrosis: an early report card. Genet. Med. 6(3), 115-116 (2004).