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Chromosomal Microarray Testing

In Patients with Development Delay, Autism or other Congenital Anomalies



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When to Order a Microarray?

Slide 10

September 2011

And now Karen Wain will discuss microarray testing from the clinical perspective, particularly current recommendations for when it is appropriate to order testing and what should be included when discussing testing with your patient.

Hello. Recently published clinical recommendations regarding chromosomal microarray testing are now available from the American College of Medical Genetics. These state that chromosomal microarray testing is a recommended first-line test for the initial postnatal evaluation of individuals with multiple congenital anomalies (particularly if not specific to a well-delineated syndrome), apparently nonsyndromic developmental delay or intellectual disability, or an autism spectrum disorder.

However, a standard karyotype is still the appropriate test for couples with multiple miscarriages or infertility, since balanced rearrangements which predispose to fertility problems would not be detected by microarray. Also, if a sex chromosome anomaly is suspected due to clinical features, a standard karyotype is recommended due to the complexities of possible mosaicism, particularly for suspected Turner syndrome.

When to Order a Microarray?

 


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