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Common Test-Ordering Errors
Part 3: Misordered Tests

"Known" Mutations
Molecular vs. Nonmolecular Test for Given Disease
Chromosome Analysis


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Cystic Fibrosis

Slide 7

June 2010

7When a mutation has been previously identified in an affected family member, known-mutation testing (that is, the “CFTR Gene, Known Mutation Test”) can determine if a family member is a carrier of that mutation. Conversely, when a mutation has not been previously identified, a panel of the most common mutations known to occur or sequencing of the entire CFTR gene are indicated. Mayo’s CF panel includes the 70 most common mutations, including the 23 mutations recommended by the American College of Medical Genetics and American College of Obstetricians and Gynecologists. Because full gene sequencing is much more costly than the panel, we recommend the panel as a first-order diagnostic test, reserving gene sequencing for when the panel is negative. Once a mutation has been identified, subsequent family members can be tested for that mutation using the known-mutation test.

Cystic Fibrosis


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