qPCR solutions for inherited disease research

Inherited diseases are genetically passed down from parent to child through abnormalities in the genome. These abnormalities can be a single-gene mutation or a host of complex mutations that combine with environmental factors to cause the disease.

Thermo Fisher Scientific provides real-time PCR solutions for detection and analysis of these genetic mutations for your research needs.

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Features of this solution

  • Fully qualified content—all 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 choice of four assay formats, including prespotted 384-well arrays and OpenArray plates
  • Extensive menu of targets—design custom research panels from a menu of 199 CFTR gene targets, including full coverage of ACMG-23 panel and majority coverage of CFTR2 mutation list
  • Low cost per sample—significantly lower reagent costs with OpenArray nanofluidic technology

 Get a list of TaqMan Assays for CFTR gene mutations ›

What’s included as part of this qualified solution?

Qualified TaqMan Assays 

OpenArray format (flexible panel) 

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Single-tube assays 

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Controls and master mixes

CFTR TaqMan Assay controls  

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TaqMan Genotyping OpenArray Master Mix  

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Data and support

Quick reference guide: CFTR TaqMan Assay controls 

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Workflow application guide 

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Compliance and training products/services 

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List of CFTR mutation assays that can be included in a custom TaqMan genotyping plate.

Development of a high-throughput workflow for genotyping CFTR mutations.

Cystic fibrosis (CFTR gene mutation)

Cystic fibrosis (CF) is an autosomal recessive inherited genetic disease that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is the most common genetic disease of Caucasians, affecting 1 in 3,000 newborns and having a carrier frequency of 1 in 25. Mutations in the CFTR gene that reduce the quantity or the function of CFTR proteins can cause CF or related diseases when both gene copies are impaired.

About our qualified solution

To facilitate the investigation of CFTR mutations, Thermo Fisher Scientific has developed a qualified solution, allowing you to design your own panel of up to 199 TaqMan assays specific to CF-causing mutations including full coverage of ACMG-23 panel and majority coverage of the CFTR2 mutation list. Qualified CFTR mutation assays demonstrate accurate, reproducible performance in multiple rounds of testing and perform well with DNAs isolated from blood leukocytes and buccal cell samples.

Design a custom panel by choosing relevant targets from this menu to design an OpenArray panel with prespotted TaqMan assays. This can also be Incorporate your panel into a complete workflow from sample preparation to data analysis to obtain genotyping results in less than one day.

Looking for formats other than OpenArray? Contact your sales representative.

Configure your CFTR panel


Genotyping workflow
ico-blood-vial

Whole blood or Buccal Swabs

Time: 5 minutes

ico-magmax

MagMAX DNA Multi-Sample Ultra kit and KingFisher Flex Magnetic Particle Processor

Time: 90 minutes

Learn More About the KingFisher System

load-openarray-plates

Load OpenArray plates using AccuFill system or 384 well plates pre-plated with assays

Time: 20 minutes

Learn More About OpenArray

 
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QuantStudio 12K Flex Real-Time PCR System

Time: 240 minutes

Learn More About the QuantStudio 12K Flex System

ico-data-analysis

TaqMan Genotyper Software or Thermo Fisher Cloud GT module

Time: 30 minutes

ico-blood-vial

Whole blood or Buccal Swabs

Time: 5 minutes

ico-magmax

MagMAX DNA Multi-Sample Ultra kit and KingFisher Flex Magnetic Particle Processor

Time: 90 minutes

Learn More About the KingFisher System

load-openarray-plates

Load OpenArray plates using AccuFill system or 384 well plates pre-plated with assays

Time: 20 minutes

Learn More About OpenArray

 
data.par.57745.image.dpcr-workflow---step-5

QuantStudio 12K Flex Real-Time PCR System

Time: 240 minutes

Learn More About the QuantStudio 12K Flex System

ico-data-analysis

TaqMan Genotyper Software or Thermo Fisher Cloud GT module

Time: 30 minutes


Panel flexibility

Panel Flexibility

The Applied Biosystems QuantStudio 12K Flex Real-Time PCR System utilizes OpenArray plates for a high throughput nanofluidic workflow or 96- and 384-well plates for lower throughput needs. Each OpenArray plate has over 3,000 through holes and can be customized and configured with TaqMan Assays for many different sample and assay formats. Whether you have just a few targets and need a higher sample throughput or you want a more complete panel with more assays, the QuantStudio 12K Flex and OpenArray platform is flexible to fit your needs. 

Learn More About OpenArray Technology

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