Cystic Fibrosis
Cystic Fibrosis (CF) is the most common lethal inherited disease in white persons. It is a life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, North America and Australia.
Overview
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Cystic Fibrosis (CF) is the most common lethal inherited disease in white persons. It is a life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, North America and Australia. The disease is caused by mutation of a gene that encodes a chloride-conducting transmembrane channel that regulates anion transport and mucociliary clearance in the airways and other exocrine glands. This leads to an exocrine gland dysfunction that involves multiple organ systems resulting in chronic respiratory infections, pancreatic enzyme insufficiency, infertility and associated complications in untreated patients. End-stage lung disease is the principal cause of death. Most of the carriers of the CF gene are asymptomatic, therefore the importance of prenatal diagnosis as well as parent screening can identify those patients at risk of transmitting the mutation to their offspring.
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The Igenomix Cystic Fibrosis Precision Panel can be used as a diagnostic and screening tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes.
Indication
The Igenomix Cystic Fibrosis Precision Panel is indicated in those cases where there is a clinical suspicion of CF or family history of CF with or without the following manifestations:
- Meconium ileus
- Rectal prolapse
- Pancreatic insufficiency: fat-soluble vitamin deficiency, malabsorption of fats, proteins and carbohydrates
- Failure to thrive
- Foul-smelling flatus
- Recurrent abdominal pain and abdominal distention
- Chronic and recurrent cough
- Recurrent pneumonia
- Shortness of breath on exertion
- Upper respiratory tract infections
- Undescended testicles
- Infertility
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular diagnosis for an accurate clinical diagnosis and improve prognosis.
- Early initiation of treatment with a multidisciplinary team to maintain lung function, administering nutritional therapy to maintain adequate growth and manage complications.
- Risk assessment and genetic counselling of asymptomatic family members to identify the likelihood of the individual being affected by the disease or being a carrier.
- Factors to consider when deciding whether to have CF genetic testing.
References
Davis, P., Drumm, M., & Konstan, M. (1996). Cystic fibrosis. American Journal Of Respiratory And Critical Care Medicine, 154(5), 1229-1256. doi: 10.1164/ajrccm.154.5.8912731
Cystic Fibrosis Mutation Database: Statistics. (2021). Retrieved 19 February 2021, from http://www.genet.sickkids.on.ca/cftr/StatisticsPage.html
Elborn J. S. (2016). Cystic fibrosis. Lancet (London, England), 388(10059), 2519–2531. https://doi.org/10.1016/S0140-6736(16)00576-6
Cutting G. R. (2015). Cystic fibrosis genetics: from molecular understanding to clinical application. Nature reviews. Genetics, 16(1), 45–56. https://doi.org/10.1038/nrg3849
Hale, J., Parad, R., & Comeau, A. (2008). Newborn Screening Showing Decreasing Incidence of Cystic Fibrosis. New England Journal Of Medicine, 358(9), 973-974. doi: 10.1056/nejmc0707530
Skov, M., Hansen, C. R., & Pressler, T. (2019). Cystic fibrosis – an example of personalized and precision medicine. APMIS : acta pathologica, microbiologica, et immunologica Scandinavica, 127(5), 352–360. https://doi.org/10.1111/apm.12915
Comeau, A., Accurso, F., White, T., Campbell, P., Hoffman, G., & Parad, R. et al. (2007). Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report. PEDIATRICS, 119(2), e495-e518. doi: 10.1542/peds.2006-1993
Moskowitz, S. M., Chmiel, J. F., Sternen, D. L., Cheng, E., Gibson, R. L., Marshall, S. G., & Cutting, G. R. (2008). Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. Genetics in medicine : official journal of the American College of Medical Genetics, 10(12), 851–868. https://doi.org/10.1097/GIM.0b013e31818e55a2
Culling, B., & Ogle, R. (2010). Genetic Counselling Issues in Cystic Fibrosis. Paediatric Respiratory Reviews, 11(2), 75-79. doi: 10.1016/j.prrv.2010.01.001