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Expert Review of Molecular Diagnostics Volume 6, 2006 - Issue 1
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Diagnostic Profile

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

Jean A Amos Focus Diagnostics, 10703 Progress Way, Cypress, CA 90630, USA. [email protected]
,
Philippa Bridge-Cook Scientific Insights Consulting Group, 1993 Balsam Ave., Mississauga, ON, L5J 1L3, Canada. [email protected]
,
Victor Ponek Specialty Laboratories, Inc., 27070 Tourney Road, Valencia, CA 91355, USA. [email protected]
&
Michael R Jarvis Focus Diagnostics, 10703 Progress Way, Cypress, CA 90630, USA. [email protected]
Pages 15-22 | Published online: 09 Jan 2014

References

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  • Farrell MH, Farrell PM. Newborn screening for cystic fibrosis: ensuring more good than harm. J. Pediatr. 143(6), 707–712 (2003).
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  • 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).
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  • 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).
  • 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).
  • Palomaki GE. Prenatal screening for cystic fibrosis: an early report card. Genet. Med. 6(3), 115–116 (2004).

Website

  • American College of Medical Genetics: Technical Standards and Guidelines for CFTR Mutation Testing, 2005 Edition. www.acmg.net/Pages/ACMG_Activities/ stds-2002/cf.htm

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