Chromosomal Microarray Testing

180K Oligonucleotide Microarray

September 2011

This slide shows a schematic representation of how our current clinical chip is designed. This chip has 180,000 independent probe locations. Most of these probes are evenly distributed across the genome at approximately 25,000 base pair or kilobase probe spacing. Since we need 5 consecutive probes showing the same deviation pattern designating either copy number loss or gain, our functional resolution is approximately 100 kilobases anywhere in the genome. However, some regions of the genome we know to be clinically significant (such as specific genes or regions such as the subtelomeric regions designated in blue on this slide or the pericentromeric regions designated in red) so we have approximately 500 targeted regions with additional probes at approximately 5 kilobase intervals giving us a functional resolution of 20 kilobases in those regions.

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180K Oligonucleotide Microarray

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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?