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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 9

June 2010

To summarize, for many genetic diseases, MML offers tests to either diagnose the disease (these are typically named by the disease or the affected gene) or to determine if a previously identified genetic abnormality is present in a family member (the names of these tests include the disease or affected gene, followed by the phrase “known mutation”). Known-mutation testing is very focused and may not provide the desired information when ordered inappropriately. On the other hand, in the right situation, that is, when a mutation has been previously identified in an affected family member, a known-mutation test result can be predictive or diagnostic for that specific disorder. It also can be obtained more quickly and at a lower charge than its diagnostic counterpart. It is important to understand these distinctions when ordering.

Genetic Testing

 


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