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Chromosomal Microarray Testing

In Patients with Development Delay, Autism or other Congenital Anomalies



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Interpretation of Results

Slide 9

September 2011

So, on a typical 180k array that is run on a patient, we will see approximately 20 copy number changes per individual. Each of these copy number variations is assigned to 1 of 5 different categories: pathogenic, likely pathogenic, uncertain, likely benign, or benign. Thankfully most of these copy number changes can easily be assigned to either benign or pathogenic categories. However, a small subset of them have to have further interpretation. For copy number changes where there is a bit of uncertainty, we will classify them into either the likely pathogenic based on the size or the number of genes in the region or likely benign if there are very few or a small region or those that are truly uncertain we will actually sign out an equivocal result. So any CNVs of clinical concern are reported and discussed in the interpretive report.

Interpretation of Results

 


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