Cystic Fibrosis

ARUP’s new cystic fibrosis (CF) 165 pathogenic variants assay screens individuals or couples who are pregnant or planning a pregnancy, and can serve as a first-tier diagnostic test for those affected with CF.

Our cystic fibrosis test menu now offers four new CF 165 pathogenic variants assays:

  • 2013661: Cystic Fibrosis (CFTR), 165 Pathogenic Variants
  • 2013662: Cystic Fibrosis (CFTR), 165 Pathogenic Variants, Fetal
  • 2013663: Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing
  • 2013664: Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing and Deletion/Duplication

Ethnicity CF Carrier Detection Rate with 165 Variants Test CF Carrier Detection Rate with 32 Variants Test CF Patients with Two Identifiable Variants on 165 Variants Test CF Patients with Two Identifiable Variants on 32 Variants Test
African American 78% 65% 61% 43%
Ashkenazi Jewish 96% 94% 92% 89%
Asian American 55% 55% 30% 30%
Caucasian 92% 89% 84% 79%
Hispanic American 80% 73% 64% 53%

Over 2000 variants have been detected in the CFTR gene. Since most are extremely rare and many have unknown significance, the American College of Medical Genetics has recommended screening for at least the 23 most common pathogenic CFTR variants. ARUP has recently improved its CFTR screening assay to increase the test’s sensitivity. The above chart provides a comparison of the detection rate of the old Cystic Fibrosis (CFTR) 32 Pathogenic Variants test and the new Cystic Fibrosis (CFTR) 165 Pathogenic Variants test in CF carriers and those affected with disease.