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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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Chromosome Analysis, Mitomycin C Stress for Fanconi Anemia, Blood (#81332)

Slide 14

June 2010

We offer another chromosome test that is for a specific hematologic disorder, namely Fanconi anemia. Clinically, Fanconi anemia is associated with progressive pancytopenia and a variety of developmental abnormalities. Fanconi anemia is a DNA repair disorder characterized by increased chromosome breakage. This abnormality can be visualized using special laboratory techniques. The cells of affected patients demonstrate increased chromosome breakage when cultured with cross-linking agents such mitomycin C, inducing specific abnormal formations that are diagnostic for Fanconi anemia. For this test, cells are cultured with a cell mitogen and are incubated 66 to 72 hours. Mitomycin C is added to cultures about 48 hours prior to harvesting. In the harvest process, the cells are exposed to an agent that arrests the cells in metaphase. They are then examined for the specific radial anomalies that are characteristic of the disorder.

Because the techniques employed during chromosome analyses vary depending on the suspected disorder, if the nature of the clinical question is not clear on the test requisition, it is important to query ordering physicians. For this reason, we request that our “additional test information forms” be completed, not only to provide information to laboratory staff performing and interpreting the test, but also to ensure that the correct test is ordered.

Mitomycin C Stress for Fanconi Anemia, Blood (#81332)


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