Chromosomal Microarray Testing

When to Order a Microarray?

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.

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When to Order a Microarray?

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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?