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Updated: May 17, 2026
09:16
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages,
Curtis R Coughlin1, Gunter H Scharer2, Tamim H Shaikh2
1Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, CO 80045, USA.
Genome Medicine
|November 2, 2012
Summary
Copy number variation (CNV) analysis is a powerful tool in medical genetics, identifying genomic alterations for diagnosing diseases. Careful genetic counseling is essential due to potential findings of unknown clinical significance.
Area of Science:
- Medical Genetics
- Genomics
- Clinical Diagnostics
Background:
- Copy number variation (CNV) analysis has revolutionized medical genetics by identifying disease-causing genomic alterations.
- CNV analysis is now a standard in clinical diagnostic laboratories, increasing the detection of chromosomal abnormalities.
Purpose of the Study:
- To review the advantages and limitations of CNV discovery in clinical diagnostic laboratories.
- To examine the impact of CNV analysis on clinicians and families.
Main Methods:
- Review of current literature and clinical practices regarding CNV analysis.
- Analysis of the diagnostic yield and clinical utility of CNV detection.
Main Results:
- CNV analysis significantly increases the detection of chromosomal abnormalities, aiding prenatal decision-making, clinical management, and genetic counseling.
- CNV analysis can reveal genomic alterations with unknown clinical significance or unintended information, underscoring the need for informed consent.
Conclusions:
- CNV analysis is a valuable diagnostic tool in medical genetics but requires careful interpretation and communication.
- Informed consent and genetic counseling are crucial for managing the implications of CNV findings for patients and families.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
02:34DNA 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...