Design, development, validation, and use of synthetic nucleic acid controls for diagnostic purposes and application to cystic fibrosis testing

Journal of Molecular Diagnostics

Volumn 9, Issue 3, 2007, Pages 315-319

  Christensen, Todd M ^a   Jama, Mohamed ^b   Ponek, Victor ^c   Lyon, Elaine ^b   Wilson, Jean Amos ^d   Hoffmann, Marcy L ^a   Bejjani, Bassem A ^a  

^a SACRED HEART MEDICAL CENTER   (United States)

^b ARUP LABORATORIES   (United States)

^c Specialty Laboratories   (United States)

^d Focus Diagnostics Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEIC ACID; NUCLEIC ACID BASE; OLIGONUCLEOTIDE; SYNTHETIC DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; ASSAY; CANCER SCREENING; CYSTIC FIBROSIS; GENE MUTATION; METHODOLOGY; MOLECULE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; STANDARD; VALIDATION PROCESS;

EID: 34548159428     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2007.060180     Document Type: Article

References (10)

1. National Committee for Clinical Laboratory Standards: Molecular Diagnostic Methods for Genetic Diseases. Approved Guidelines. NCCLS document MM1-A, vol 20. Wayne, National Committee for Clinical Laboratory Standards, 2000
2. The American College of Obstetricians and Gynecologists and American College of Medical Genetics: Preconception and prenatal carrier screening for cystic fibrosis, clinical and laboratory guidelines. Washington DC, 2001
3. Department of Health and Human Services, Centers for Medicare and Medicaid Services: Clinical laboratory improvement amendments of 1988; Final rule. Fed Reg 1992, 57:7002-7003
4. Department of Health and Human Services, Centers for Medicare and Medicaid Services: Genetic Testing under CLIA. Fed Reg 2000, 65:25928-24934
5. Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, Gorvoy JD, Quittel L, Friedman KJ, Silverman LM, Boucher RC, Knowles MR: A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 1994, 331:974-980
6. Kerem B-S, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui L-C: Identification of the cystic fibrosis gene: genetic analysis. Science 1989, 245:1073-1080
7. Riordan JR, Rommens JM, Kerem B-S, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, Drumm ML, Iannuzzi ML, Collins FS, Tsui L-C: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989, 245:1066-1073
8. Rommens JM, Iannuzzi MC, Kerem B-S, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, Buchwald M, Roirdan J, Tsui L-C, Collins FS: Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989, 245:1059-1065
9. Grody WW, Cutting GR, Klinger K, Richards CS, Watson MS, Desnick RJ: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001, 3:149-154
10. Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW: Cystic fibrosis population carrier screening: 2004 revision of the American College of Medical Genetics mutation panel. Genet Med 2004, 6:387-391