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Chromosomal Microarray Testing

In Patients with Development Delay, Autism or other Congenital Anomalies


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Post-Test Follow-Up

Slide 14

September 2011

Post-test counseling regarding results should ideally be done in person rather than over the phone. Also, patients benefit from hearing complex information multiple times and presented in different ways, so even if you feel confident in your understanding of results and your ability to communicate them, the patient or family would likely benefit from an additional consultation with a genetics professional. The American College of Medical Genetics and the National Society of Genetic Counselors websites both have directories to help find the genetics clinic nearest you.

Discussing test results with a family should include an explanation of what type of anomaly was found, again using pictures if possible. Depending on the anomaly found, it may be appropriate to provide natural history information about a condition, if it is well-described. Similarly, discussing a particular gene involved may be appropriate if it is one that is known to lead to a particular condition or predisposition when deleted or duplicated. However, it is generally not useful to provide your patient with a long list of genes, many of which have little or no true data regarding the consequence of deletion or duplication in humans. If the test result is uncertain and parental testing is suggested, explain again how parental testing will help clarify the child's results, and be sure to reiterate that we all carry some deletions and duplication that are a part of normal genetic diversity.

Post-Test Follow-Up


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