Chromosomal Microarray Testing

History of Cytogenetic Testing

September 2011

G-banded chromosome studies have been the workhorse of cytogenetics laboratories for over 40 years. The major advantage of this technique is that it presents a picture of the entire genome in a single assay. However, the major disadvantage of this technique is that it is very subjective and has a relatively low resolution such that deletions or duplications of genomic material below approximately 5 million base pairs or 5 megabases are generally not visible. Chromosome studies detect a rearrangement in approximately 4% of patients with developmental delay, autism, or multiple congenital anomalies.

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History of Cytogenetic Testing

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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?