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Related Concept Videos

DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Clinical utility of chromosomal microarray analysis.

Jay W Ellison1, J Britt Ravnan, Jill A Rosenfeld

  • 1Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington 99207, USA. jay.ellison@perkinelmer.com

Pediatrics
|October 17, 2012
PubMed
Summary
This summary is machine-generated.

Chromosomal microarray analysis frequently diagnoses disorders needing medical attention. Physicians appropriately act on these results, confirming the clinical utility of this genetic testing method.

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Area of Science:

  • Genetics and Genomics
  • Medical Diagnostics
  • Clinical Medicine

Background:

  • Chromosomal microarray analysis (CMA) is a powerful tool for diagnosing genetic disorders.
  • Understanding the frequency of actionable diagnoses and physician response is crucial for assessing CMA's clinical utility.

Purpose of the Study:

  • To evaluate if CMA frequently identifies conditions requiring medical follow-up.
  • To determine if physicians appropriately respond to abnormal CMA results.

Main Methods:

  • Analysis of 46,298 postnatal patient tests using CMA.
  • Tallying the frequency of abnormalities with actionable clinical features.
  • Monitoring physician response to a subset of abnormal results.

Main Results:

  • CMA identified 2088 diagnoses of over 100 disorders with specific follow-up needs.
  • The detection rate for these conditions was 5.4%, representing 35% of significant abnormal results.
  • Physicians took appropriate clinical action in over 90% of monitored cases following CMA findings.

Conclusions:

  • CMA frequently diagnoses disorders that necessitate medical attention.
  • Physician response to CMA diagnoses is appropriate, demonstrating clinical utility.
  • CMA testing offers significant clinical value for a substantial number of patients.