Cystic Fibrosis Transmembrane Regulator (CFTR) testing for cystic fibrosis
Record ID 32013000567
English
Authors' recommendations:
Cystic fibrosis (CF) is a recessive genetic disorder (i.e., an individual needs to inherit a copy of a genetic variant from both parents in order to have the disease). It is characterized by impairment in the transport of chloride and sodium across cell membranes, which can result in an imbalance of water absorption, thereby causing dehydration. The liquid depletion results in the presence of thick and sticky mucus that causes blockage of ducts and tubes in various organs, including the lungs, pancreas, liver, and intestines. CF affects approximately 30,000 individuals in the United States. The prevalence rates vary by ethnicity, with whites having the highest rates at 1 in every 3000 births. Lower prevalence is observed in Asians (1 in 35,000), African Americans (1 in 15,000), Hispanic Americans (ranging from 1 in 9200 to 1 in 13,500), and Native Americans (1 in 10,900). In 2011, the average age of survival for individuals with CF was 36.8 years. A majority of CF treatments target CF symptoms and include pancreatic enzyme supplements for pancreatic-insufficient patients, antibiotics to reduce infections, and medications that alter mucus consistency.
CF is caused by presence of a variant on both copies of the cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR) gene. Variants in this gene result in impairment of the CFTR protein, which serves as a chloride channel allowing transport of chloride and sodium through the cell membrane. More than 1900 variants have been described in the CFTR gene. However, most of these variants are rare and their functional role has not been elucidated. Genetic testing for CFTR has a number of different applications, which include carrier testing and screening, prenatal diagnosis, preimplantation genetic diagnosis (PGD), newborn screening, and identification of individuals who will benefit from specific drug therapies.
Details
Project Status:
Completed
Year Published:
2013
URL for published report:
The report may be purchased from: http://www.hayesinc.com/hayes/crd/?crd=15253
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
United States
MeSH Terms
- Cystic Fibrosis
Contact
Organisation Name:
HAYES, Inc.
Contact Address:
157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218
Contact Name:
saleinfo@hayesinc.com
Contact Email:
saleinfo@hayesinc.com
Copyright:
2013 Winifred S. Hayes, Inc
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