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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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Genetic Testing

Slide 5

June 2010

A common ordering error that we see among our molecular tests is ordering a diagnostic test when a known-mutation test is indicated and vice verse. Let me expand upon this a bit further. One category of molecular tests consists of those tests that identify unknown genetic abnormalities. This can be done by a whole variety of laboratory methods including PCR, gene sequencing, and others. In these situations, the patient has a set of clinical and laboratory findings that suggest a certain genetic abnormality and the lab conducts testing to see if a genetic abnormality is present.

Another category of molecular testing occurs when a specific genetic abnormality has been previously identified in an individual’s DNA. The lab then conducts focused testing to see if that specific, previously identified DNA abnormality also is present in a family member’s DNA. Tests of this second type include the phrase “known mutation” in their Mayo test name.

Genetic Testing

 


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