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تعداد آیتم قابل مشاهده باقیمانده : 1 مورد

Incidental finding of a variant in the CFTR gene

Incidental finding of a variant in the CFTR gene
Refer to UpToDate for details of the clinical presentations of CF, CF-related disorder, and CFTR-related metabolic syndrome, as well as topics on testing and carrier screening.

CF: cystic fibrosis; CLIA: Clinical Laboratory Improvement Amendments; VUS: variant of uncertain significance.

* Resources for information about variant reclassification include:

  • The original testing laboratory
  • Curated databases such as ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/)
  • A genetic counselor or CF expert
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