Article

Cystic Fibrosis Screen-Positive Neonates with One Pathogenic Variant Still Warrant Sweat Testing

2023-07-11

Abstract excerpt

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...

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Literature Corpus work: d6131f81-f4d6-57e7-b425-02f9bcdc71c2
DOI: 10.22541/au.168907869.94318942/v1

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