Cystic fibrosis

Cystic fibrosis (CF) is an autosomal recessive disorder characterized by pulmonary disease, pancreatic insufficiency, elevated sweat chloride levels, and male infertility. CF affects approximately 30,000 children and adults in the US, and approximately 10 million Americans are CF carriers. Ambry Genetics is committed to caregivers and patients in the CF community through diagnostic testing, research, education, and support for advocacy groups.

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Test Code: 1002 Test Name: 508FIRST reflex seq & del/dup TAT 5-13 days Gene: 1
Test Code: 1007 Test Name: CFTR seq and del/dup TAT 5-13 days Gene: 1

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When To Consider Testing

  • Confirm a diagnosis of CF in individuals with a known or suspected diagnosis based on symptoms 
  • Carrier screening for those at increased risk to be a carrier based on ethnicity, specific symptoms, family history, and/or for partners of individuals that are CF carriers (for reproductive/prenatal genetic testing purposes) 
  • Confirm a diagnosis in pregnancies identified to be at increased risk for CF (e.g. echogenic bowel, other indicators)

Carrier Risk and Detection Rates:

Ethnic Group A Priori Carrier Risk   Estimated Detection Rate** Residual Risk to be a Carrier***
Sequencing Sequencing & Del/Dup Sequencing Sequencing & Del/Dup
Ashkenazi Jewish 1/24 97-98% ~ 99% ~ 1/959 ~ 1/2301
Non-Hispanic Caucasian 1/25 97-98% ~ 99% ~ 1/1001 ~ 1/2401
Hispanic American* 1/58 97-98% ~ 99% ~ 1/2376 ~ 1/5701
African American 1/61 97-98% ~ 99% ~ 1/2501 ~ 1/6001
Asian American 1/94 97-98% ~ 99% ~ 1/3876 ~ 1/9301
  • * This is a pooled set of data and requires additional information to predict risk accurately for specific Hispanic populations.
  • ** Based on Ambry’s empirical data.
  • *** Based on a negative family history.
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  • Clinical sensitivity for CF genetic screening depends on the test ordered and the ethnic background of the patient.  Gene sequencing and deletion/duplication anaylisis can detect mutations in 99% of people with a clinical diagnosis of CF (clinical sensitivity).  Ambry's cystic fibrosis testing can detect >99.9% of described mutations in the CFTR gene, when present (analytic sensitivity).

Test Description

  • 508First reflex seq and del/dup:  Analysis of the most common CFTR pathogenic mutation (p.F508del), followed by full NGS sequencing and deletion/duplication testing by MLPA of the CFTR gene if p.F508del is not detected
  • CFTR seq and del/dup:  Simultaneous full NGS sequencing and gross deletion/duplication testing by MLPA of the CFTR gene
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