Chromosomal Microarray Testing In Patients with Development Delay, Autism or other Congenital Anomalies

Chromosomal Microarray Testing

In Patients with Development Delay, Autism or other Congenital Anomalies

Introduction

September 2011

Our presenters for this program are Dr. Erik Thorland, Director of the Mayo Clinic Cytogenetics Laboratory and Karen Wain, Genetic Counselor in the Department of Laboratory Medicine and Pathology at Mayo Clinic in Rochester, MN.  Dr. Thorland will describe the technical aspects of chromosomal microarray testing and Karen will discuss microarray testing from the clinical perspective, particularly current recommendations for when to order testing and how to discuss testing and test results with your patient.

After viewing the Hot Topic, we invite you to participate in Beyond Hot Topic. This question and answer session will be posted online approximately 1 month after the Hot Topic presentation is posted. You can submit a question for Dr. Thorland or Karen at the end of the presentation. Alternatively, you can submit a question by selecting the Beyond Hot Topic link on the Hot Topic page. Thank you, Dr. Thorland and Karen.

Introduction

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Jump to section:

• 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?

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