Chromosomal Microarray Testing

Interpretation of Results

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.

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Interpretation of Results

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Jump to section:

• Introduction
• History of Cytogenetic Testing
• History of Cytogenetic Testing
• Chromosomal Microarray Testing
• Chromosomal Microarray Data
• 180K Oligonucleotide Microarray
• Limitations of Chromosomal Microarray
• Human Copy Number Variation (CNV)
• Interpretation of Results
• When to Order a Microarray?
• Additional ACMG Recommendations
• Pretest Counseling
• Pretest Counseling
• Post-Test Follow-Up
• Post-Test Follow-Up
• Post-Test Follow-Up
• The International Standards for Cytogenomic Arrays (ISCA) Consortium
• The ISCA Consortium
• Providing Clinical Information
• Conclusions
• Mayo Clinic Cytogenetics Laboratory
• Questions?