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In 15 seconds, new test will ID presence of 25 most common mutations of cystic fibrosis

5 mutations has also been ranked according to a disease severity index. For example, the severity of R117H, a rare ACOG 25 CF mutation, is associated with the presence of 5T, a variation on another region of the CF gene. Test results often show this 5T variation alone. Such results may be misleading for physicians and patients because this particular variant is not indicative of CF unless associated with the rare mutation (R117H) detected in the ACOG panel. Therefore, a reflex panel has been recommended to test for this particular variation only in the presence of the mutation.

The ACOG guidelines require that the female's genotype be evaluated first. In the event her DNA reveals she has a CF mutation, a genetic counselor will explain the severity of CF any offspring would have, should an identical mutation be found in the male. When both parties have the same mutation, the odds are one-in-four that the offspring will be CF-positive.

Genetic Testing for Cystic Fibrosis

To discuss the current state of CF testing technology is Cindy WalkerPeach, Ph.D, of Ambion Diagnostics, a division of Ambion, Inc. in Austin, TX. Dr. WalkerPeach will make her presentation entitled, "Cystic Fibrosis Testing: Current Platforms and Emerging Technologies," during the 55th Annual Meeting of the American Association for Clinical Chemistry (AACC) in Philadelphia, PA, July 20-24, 2003.

The demand for testing has risen in the past year in response to the ACOG recommendations. Several manufacturers have developed screening tests to meet the increasing needs. Others are working on a newer generation of tests, classified as emerging technologies. Large laboratories have also conducted their own research and created in-house tests.

A New 15 Second Test

Ambion Diagnostics has developed a bead-array test that will become available in first quarter, 2004. The DNA test panel evaluates 31 CF mutations, including the 25 recommended for carrier
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Contact: Donna Krupa
djkrupa1@aol.com
703-527-7357
American Association for Clinical Chemistry
21-Jul-2003


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