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eSensor® XT-8 System Cystic Fibrosis Genotyping Test

 

 

Complex molecular testing at your fingertips

 

The eSensor® CF Genotyping Test is for in vitro diagnostic use to simultaneously detect and identify a panel of mutations and variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

 

 

  • Overview
  • Specifications
  • References

 

Simple, Fast and Reliable Results

 

  •  Simple 3 step workflow with a turn-around time under 4 hrs
  • Electrochemical detection technology assures first run calls and test results you can be confident in.
  • Comprehensive Poly T test results summarized on and easy to interpret one page report. (No reflexing required)

 

 

 

Specifications

The panel includes mutations and variants recommended by the 2004 American College of Medical Genetics (ACMG)

The eSensor® CF Genotyping Test is a qualitative genotyping test that provides information intended to be used for cystic fibrosis carrier screening as recommended by ACMG and the 2005 American College of Obstetricians and Gynecologists (ACOG) for adults of reproductive age, as an aid in newborn screening for cystic fibrosis, and in confirmatory diagnostic testing for cystic fibrosis in newborns and children.

 

 

 


 

1.      The Cystic Fibrosis mutation "arms race": when less is more.

Grody WW, Cutting GR, Watson MS.

Genet Med. 2007 Nov;9(11):739-44.

 

2.      Is cystic fibrosis carrier screening cost effective?

Wei S, Quigg MH, Monaghan KG.

Community Genet. 2007;10(2):103-9.

Between 2001 and 2005, 6,166 females underwent cystic fibrosis (CF) carrier screening at our institution. Only 36% were Caucasian. We identified 143 carrier females and subsequently tested 85 of their partners. The observed carrier frequency was not significantly different than expected for any racial or ethnic group tested. We identified 6 positive couples (5 Caucasian, 1 Arab American) and 1 affected fetus. In just under 4 years, our institution spent approximately $334,000 on CF population screening. Comparing this to the lifetime medical cost for a CF patient, CF population-based carrier screening is cost effective at our institution, despite the high number of non-Caucasians being screened. Copyright 2007 S. Karger AG, Basel.

 

3.      Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.

Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ; Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. American College of Medical Genetics.

Genet Med. 2001 Mar-Apr;3(2):149-54.

 

4.      Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.

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.