Chromosomal Microarray Testing

Human Copy Number Variation (CNV)

September 2011

In humans, there is quite a bit of copy number variation, so advances in microarray technology have led to the discovery of widespread copy number variation in normal individuals. Much of this variation is attributed to common copy number polymorphisms. However, a small proportion of this variation is rare or novel, making interpretation of pathogenic significance difficult.

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Human Copy Number Variation (CNV)

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• 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?