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CF Gene Mutation Testing
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Common Questions
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1. Will this CF gene mutation test pick up any other genetic diseases?
2. What will my risk of being a carrier be if I am of mixed ethnicity?
3. What are the advantages of the DNA-based blood test over other CF screening tests?
4. Does the state require or offer newborn screening for CF? Do I need to request it?
1. Will this CF gene mutation test pick up any other genetic diseases?
No, it is only checking for specific CF mutations. Every genetic disease requires specific DNA testing to identify it (assuming that the gene and mutations causing it are known).
2. What will my risk of being a carrier be if I am of mixed ethnicity?
Generally, the frequency of CF carriers is highest in Caucasians (1/25), about half that in Hispanic Caucasians and African Americans, and about half that again in Asians. Some ethnic groups, such as individuals of Eastern European Jewish descent, may show CF confined to a very limited number of mutations (e.g., ?508) and elect for testing using a limited mutation panel. Since the ethnicity of the U.S. population is becoming increasingly blended, the historical data and statistical risks are changing. Your risk may be an unknown mix of your inherited ethnic risk. Some families may also carry the additional risk of specific rare mutations within their family line.
3. What are the advantages of the DNA-based blood test over other CF screening tests?
Generally, the DNA-based mutation test is much more specific than other screening tests, which may yield abnormal results for non-CF reasons. Also, these other screening tests may be restricted as to when they can be applied (for example, newborns can not be tested with sweat chloride until about two months of age). Furthermore, DNA-based testing is the only reliable means of identifying carriers of CF mutations, and it is in this capacity that the testing is being most widely applied.
4. Does the state require or offer newborn screening for CF? Do I need to request it?
More than a dozen states offer CF testing as part of their newborn screening tests, but screening requirements vary from state to state, as determined by individual state public health departments. Most states now have their own mandatory newborn screening program, but in some states, such as Wyoming and Maryland, the screening is not mandatory, so you may need to request it.
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This article was last reviewed on
January 23, 2006.
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