Chromosomal Microarray Testing

Pretest Counseling

September 2011

In the next few slides I would like to run through some basic components of a genetic counseling session involving pre- and post-test counseling around microarray testing.

Pretest counseling for microarray testing is quite complex and requires some time with a family to explain what the test is, why it is being ordered, and what the potential outcomes may be. An explanation of what testing can do is a good place to begin. Include a review of what chromosomes are, that people typically have 2 copies of each chromosome, and that we inherit 1 from each parent. Explain that sometimes people have missing or extra chromosomal material that impacts their development and that this is what the test is looking for. Using pictures is very helpful in this explanation.

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Pretest Counseling

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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?