Common Test-Ordering Errors
Part 3: Misordered Tests

Genetic Testing

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.

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Genetic Testing

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Jump to section:

• Introduction
• Testing at Mayo Medical Laboratories
• Common MML Test-Ordering Errors
• Misordered Tests
• Genetic Testing
• Cystic Fibrosis
• Cystic Fibrosis
• Multiple Endocrine Neoplasia Type 2 (MEN2)
• Genetic Testing
• Gene Test or Protein/Plasma Test?
• Gene Test or Protein/Plasma Test?
• Chromosome Analysis
• Chromosome Analysis
• Chromosome Analysis, Mitomycin C Stress for Fanconi Anemia, Blood (#81332)
• Conclusion
• Questions?