AUTHOREA
Log in
Sign Up
Browse Preprints
LOG IN
SIGN UP
Essential Site Maintenance
: Authorea-powered sites will be updated circa 15:00-17:00 Eastern on Tuesday 5 November.
There should be no interruption to normal services, but please contact us at
[email protected]
in case you face any issues.
Mei Baker
Public Documents
1
Cystic Fibrosis Screen-Positive Neonates with One Pathogenic Variant Still Warrant Sw...
Michael Rock
and 2 more
July 11, 2023
We believe that the data in this letter clearly demonstrate that even with CFTR2 expansion to 719 variants, striving to achieve equity of early diagnosis of CF via screening requires states to perform a sweat test in all infants with a high IRT level and one identified CFTR variant. This recommended policy can be debated but sweat testing overload should not be the argued as the barrier and CF specialists need to recognize that CFTR2 may never include all of the very rare, “private” pathogenic variants nor will next generation sequencing cover the structural variants such as deletions and duplications.