Cystic Fibrosis Testing


High-Throughput Qualified Solution for CFTR Mutation Detection

Cystic fibrosis (CF) is an autosomal recessive genetic disease that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which has important roles in ion exchange. CF is the most common genetic disease of Caucasians, affecting 1 in 300 newborns and having a carrier frequency of 1 in 25. CFTR mutations that reduce the quantity or the function of CFTR proteins can cause CF or related diseases when both gene copies are impaired.

A flexible, scalable, and low-cost real-time PCR solution to suit your CFTRgene-testing needs.

Combining Applied Biosystems™ TaqMan® Genotyping Assays with the Applied Biosystems™ QuantStudio™ 12K Flex Real-Time PCR System delivers a sample-to-answer workflow for CFTR mutation research.

Features include:

  • Fully qualified content — all 199 TaqMan assays demonstrate accurate and reproducible performance
  • Multiple sample types — optimized for whole blood and buccal swabs
  • Flexible formats — QuantStudio 12K Flex Real-Time PCR System provides breadth in content and the choice of four assay formats
  • Extensive menu of targets — design custom research panels from a menu of 199 CFTRgene targets, including full coverage of the ACMG-23 panel and majority coverage of the CFTR2mutation list
  • Low cost per sample — significantly lower reagent costs with Applied Biosystems™ OpenArray™ nanofluidic technology

199 CFTR fully qualified assays designed to meet call rate and accuracy requirements.

We continue to build new and valuable content to use on your Applied Biosystems™ Real-Time PCR System, helping you to maximize the use of your instrument. All qualified assays are tested against extracted nucleic acids, cell-line DNA, and synthetic controls.

For our CFTRgene mutation detection assays, we’ve made it easy for you to implement this area of testing into your laboratory quicker and with confidence. These assays come complete with:

  • Positive controls
  • User guide detailing sample-to-answer workflow from whole blood and buccal swabs
  • Analytical validation services

Sample Collection

Whole blood or Buccal Swabs
Time: 5 minutes


DNA Isolation

Applied Biosystems™ MagMAX™ DNA Multi-Sample Ultra Kit and Thermo Scientific™ KingFisher™ Flex™ Magnetic Particle Processor
Time: 90 minutes

Learn More about the KingFisher System 


Load Samples

Load Applied Biosystems™ OpenArray™ plates using AccuFill™ system or 384-well plates pre-plated with assays.
Time: 20 minutes


Genotype Analysis

TaqMan Genotyper Software or Thermo Fisher Cloud GT module
Time: 30 minutes

For Research Use Only. Not for use in diagnostic procedures.