Cystic fibrosis laboratory tests: Difference between revisions
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{{Cystic fibrosis}} | {{Cystic fibrosis}} | ||
==Overview== | ==Overview== | ||
==Laboratory Findings== | |||
Cystic fibrosis may be diagnosed by many different categories of testing including those such as, [[newborn screening]], [[sweat test]]ing, or [[genetic testing]]. As of 2006 in the United States, 10 percent of cases are diagnosed shortly after birth as part of newborn screening programs. The newborn screen initially measures for raised blood concentration of [[immunoreactive trypsinogen]].<ref>Davies J et al. Cystic Fibrosis. BMJ. 2007 Dec 15;335(7632):1255–59.</ref> However, most states and countries do not screen for CF routinely at birth. Therefore, most individuals are diagnosed after symptoms prompt an evaluation for cystic fibrosis. The most commonly-used form of testing is the sweat test. Sweat-testing involves application of a medication that stimulates sweating ([[pilocarpine]]) to one [[electrode]] of an apparatus and running [[electric current]] to a separate electrode on the skin. This process, called [[iontophoresis]], causes sweating; the sweat is then collected on filter paper or in a capillary tube and analyzed for abnormal amounts of [[sodium]] and [[chloride]]. People with CF have increased amounts of sodium and chloride in their sweat. CF can also be diagnosed by identification of mutations in the CFTR gene.<ref>Stern, RC. ''The diagnosis of cystic fibrosis.'' N Engl J Med 1997; 336:487. PMID 9017943</ref> | Cystic fibrosis may be diagnosed by many different categories of testing including those such as, [[newborn screening]], [[sweat test]]ing, or [[genetic testing]]. As of 2006 in the United States, 10 percent of cases are diagnosed shortly after birth as part of newborn screening programs. The newborn screen initially measures for raised blood concentration of [[immunoreactive trypsinogen]].<ref>Davies J et al. Cystic Fibrosis. BMJ. 2007 Dec 15;335(7632):1255–59.</ref> However, most states and countries do not screen for CF routinely at birth. Therefore, most individuals are diagnosed after symptoms prompt an evaluation for cystic fibrosis. The most commonly-used form of testing is the sweat test. Sweat-testing involves application of a medication that stimulates sweating ([[pilocarpine]]) to one [[electrode]] of an apparatus and running [[electric current]] to a separate electrode on the skin. This process, called [[iontophoresis]], causes sweating; the sweat is then collected on filter paper or in a capillary tube and analyzed for abnormal amounts of [[sodium]] and [[chloride]]. People with CF have increased amounts of sodium and chloride in their sweat. CF can also be diagnosed by identification of mutations in the CFTR gene.<ref>Stern, RC. ''The diagnosis of cystic fibrosis.'' N Engl J Med 1997; 336:487. PMID 9017943</ref> | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
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Revision as of 17:08, 31 August 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Laboratory Findings
Cystic fibrosis may be diagnosed by many different categories of testing including those such as, newborn screening, sweat testing, or genetic testing. As of 2006 in the United States, 10 percent of cases are diagnosed shortly after birth as part of newborn screening programs. The newborn screen initially measures for raised blood concentration of immunoreactive trypsinogen.[1] However, most states and countries do not screen for CF routinely at birth. Therefore, most individuals are diagnosed after symptoms prompt an evaluation for cystic fibrosis. The most commonly-used form of testing is the sweat test. Sweat-testing involves application of a medication that stimulates sweating (pilocarpine) to one electrode of an apparatus and running electric current to a separate electrode on the skin. This process, called iontophoresis, causes sweating; the sweat is then collected on filter paper or in a capillary tube and analyzed for abnormal amounts of sodium and chloride. People with CF have increased amounts of sodium and chloride in their sweat. CF can also be diagnosed by identification of mutations in the CFTR gene.[2]