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Cystic Fibrosis Genetic Resource Centers

Resource centers designed to promote newborn screening sensitivity and best practices.

About


CPHI, supported by a grant from the Cystic Fibrosis Foundation (CFF), launched the following two Genetic Testing Resource Centers to advance equitable and culturally sensitive CF newborn screening practices:


  • The Newborn Screening Laboratory at Wisconsin State Laboratory of Hygiene

  • The Newborn Screening Program at the Wadsworth Center, New York State Department of Health


With this grant support from CFF, the two centers are able to manage over 50% of the CFTR screening required across the U.S., ensuring more accessible cystic fibrosis newborn DNA testing and sequencing.


CPHI supports the infrastructure and educational activities surrounding the implementation of sequencing through the Resource Centers. 



Services offered by the Genetic Testing Resource Centers


  • Comprehensive sequencing of the CFTR coding region and flanking intronic regions to allow:

    • Panel-based genotyping of dried blood spots, targeting CF-causing variants, as defined by CFTR2 (http://cftr2.org/)

    • Reporting of variants of varying clinical consequences (upon request)

    • CFTR gene sequence analysis/re-analysis without the panel restriction (upon request)


  • Technical assistance for programs seeking to implement next generation CFTR sequencing


  • The cost of services will be managed through contractual agreements between the newborn screening program and the respective laboratories providing services.



For additional information, please contact




Latest Guidance


Expanding the Illumina 139 Panel

Technical assistance is available from the Wisconsin State Laboratory of Hygiene to support newborn laboratories interested in expanding their Illumina 139  panel to include the known disease-causing variants in CFTR2.  


For more information, please see the PDF below.



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