Forms and Documents
- Testing of individuals with symptoms and/or a clinical diagnosis of cystic fibrosis
- Testing of individuals with symptoms and/or a clinical diagnosis of a CFTR-related disorder
- Testing of newborns with a positive newborn screening result when mutation testing (using the standard 23-mutation panel) had a negative result.
- Testing of individuals with a negative carrier screening result, but a family history of cystic fibrosis.
- This test is not recommended for routine carrier screening.
- Next-Gen Sequencing
- Deletion/Duplication Analysis
- Moskowitz, S. M. et al. Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. Genet. Med. Off. J. Am. Coll. Med. Genet. 10, 851–868 (2008).
- Ong, T. et al. Cystic Fibrosis and Congenital Absence of the Vas Deferens. in GeneReviews® (eds. Adam, M. P. et al.) (University of Washington, Seattle, 1993).
- Farrell, P. M. et al. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. J. Pediatr. 181S, S4-S15.e1 (2017).
- Gilljam, M. et al. Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood. Chest 126, 1215–1224 (2004).
- Ren, C. L. et al. Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis. J. Pediatr. 181S, S45-S51.e1 (2017).
- Cystic Fibrosis Foundation et al. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J. Pediatr. 1
- Bombieri, C. et al. Recommendations for the classification of diseases as CFTR-related disorders. J. Cyst. Fibros. Off. J. Eur. Cyst. Fibros. Soc. 10 Suppl 2, S86-102 (2011).
- Abeliovich, D. et al. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am. J. Hum. Genet. 51, 951–956 (1992).
- Hamosh, A. et al. Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J. Pediatr. 132, 255–259 (1998).
- Clinical and Functional Translation of CFTR. Available at: https://www.cftr2.org/. (Accessed: 19th March 2018)
- LaRusch, J. et al. Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis. PLoS Genet. 10, e1004376 (2014).
- Yu, J., Chen, Z., Ni, Y. & Li, Z. CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. Hum. Reprod. Oxf. Engl. 27, 25–35 (2012).
- Grangeia, A. et al. Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. Genet. Med. Off. J. Am. Coll. Med. Genet. 9, 163–172 (2007).
- Langfelder-Schwind, E. et al. Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. J. Genet. Couns. 23, 5–15 (2014).
- Watson, M. S. et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet. Med. Off. J. Am. Coll. Med. Genet. 6, 387–391 (2004).