CFTR-Related Metabolic Syndrome (CRMS)

Forms and Documents

Test Details

  • 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.


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


81222x1, 81223x1
For price inquiries please email

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


  1. 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).
  2. 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).
  3. Farrell, P. M. et al. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. J. Pediatr. 181S, S4-S15.e1 (2017).
  4. Gilljam, M. et al. Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood. Chest 126, 1215–1224 (2004).
  5. 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).
  6. 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
  7. 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).
  8. 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).
  9. Hamosh, A. et al. Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J. Pediatr. 132, 255–259 (1998).
  10. Clinical and Functional Translation of CFTR. Available at: (Accessed: 19th March 2018)
  11. 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).
  12. 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).
  13. 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).
  14. 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).
  15. 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).