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Cystic Fibrosis sequencing

 

Gene Reviews

Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity vary among affected individuals.
Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.

Most people with cystic fibrosis also have digestive problems. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth. Other digestive problems result from a buildup of thick, sticky mucus in the pancreas. In people with cystic fibrosis, mucus blocks the ducts of the pancreas, reducing the production of insulin and preventing digestive enzymes from reaching the intestines to aid digestion. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus.

Cystic fibrosis is a common genetic disease within the Caucasian (white) population in the United States. The disease occurs in 1 in 2,500 to 3,500 Caucasian newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans.

Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells; the flow of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus.

Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is unusually thick and sticky. This mucus clogs the airways and various ducts, causing the characteristic signs and symptoms of cystic fibrosis.

Methodology: Sequencing analysis

Purpose: Confirmation of Clinical Diagnosis/Carrier Testing

ICD-10 Code E84.0--E84.9

Test Requisition: Sequencing Requisition

CPT Code: 81223 Cost: $1430.00; CPT Code: 81221 known familial variant Cost: $396.00

Turn-around-time: 21 days

Specimen Requirements

Shipping Information

References

1. Accurso FJ. (2006) "Update in cystic fibrosis 2005". Am J Respir Crit Care Med. 1;173(9):944-7. Review.

2. Merlo CA, Boyle MP.(2003) "Modifier genes in cystic fibrosis lung disease". J Lab Clin Med. 141(4):237-41. Review.

3. Ratjen F, Döring G.(2003) "Cystic fibrosis". Lancet. 22;361(9358):681-9. Review.

4. Rowe SM, Miller S, Sorscher EJ. (2005) "Cystic fibrosis". N Engl J Med. 12;352(19):1992-2001.

 

 

 

 

 

 

 


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Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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