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CFF Sample Submission

The CF Foundation Genotyping Center is no longer accepting new patients for the Atypical CF Sequencing Study. If you already have a patient who is approved for the study, please submit the blood and appropriate consents prior to October 15, 2003 to ensure inclusion in the study.
You may obtain consent forms and instructions for submitting an approved sample from the link below.

CFTR sequencing is available on a clinical basis from:

  • Quest Diagnostics/Nichols Institute

CFTR mutation scanning technology is available from:

  • Ambry Genetics

Refer to the Contact Us page for updated fax numbers.    .


**You will need Adobe Acrobat Reader (v.3 or greater).

      Click  here to download this free software.

For your convenience, the forms have been digitally coded to allow you to complete the fields online. 
The completed forms can be printed for signatures.
Click on each field using the tool, which should enable you to type directly into the form. Then, print the completed forms and fax them to us, as needed.

The Atypical CF Genotyping Study was designed to provide mutation identification for CF patients
meeting the following criteria:

Requirements for Patient Acceptance
Pancreatic Sufficient + Sweat Chloride < 60 mmol/L 
+ CF lung disease
Pancreatic Insufficient + Sweat Chloride < 60 mmol/L 
+ CF lung disease
Pancreatic Sufficient + Sweat Chloride > 60 mmol/L 
+ CF lung disease
Discordant families with 2 or more members having different phenotypes


Use this checklist to track and facilitate the process:

      Download and print the checklist.

If your submission has been accepted, click here to fill out additional enrollment forms.


Send mail to with questions or comments about this web site.
Copyright 2000 Cystic Fibrosis Foundation Genotyping Center
Last modified: February 27, 2000