Chromosomal Microarray Testing

Conclusions

September 2011

We hope this has been a helpful introduction to microarray testing which is now recommended as a first-line test for individuals with developmental delay or intellectual disability, multiple congenital anomalies, or autism spectrum disorder. Our new array platform contains 180,000 oligonucleotide probes for genome-wide resolution of approximately 100 kilobases and 20 kilobases in targeted regions. And again comprehensive genetic counseling is recommended.

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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?