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Updated: Feb 9, 2026
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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
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Novel applications of array comparative genomic hybridization in molecular diagnostics
Sau W Cheung1, Weimin Bi1,2
1a Department of Molecular and Human Genetics , Baylor College of Medicine , Houston , TX , USA.
Expert Review of Molecular Diagnostics
|June 1, 2018
Summary
Array comparative genomic hybridization (CGH) and SNP arrays offer high-resolution, genome-wide detection of copy number changes, advancing genetic diagnostics for intellectual disability and congenital anomalies.
Area of Science:
- Clinical Genetics
- Genomic Medicine
- Diagnostic Technology
Background:
- Array comparative genomic hybridization (CGH) revolutionized genetic diagnostics upon its clinical implementation in 2004.
- Microarray technologies, including CGH and SNP arrays, provide high-resolution, genome-wide detection of copy number variations (CNVs).
- These arrays are now first-tier tests for intellectual disability and congenital anomalies, and are used in prenatal diagnostics.
Purpose of the Study:
- To review the evolution of array CGH technology in clinical diagnostics.
- To highlight the development and application of exonic SNP arrays.
- To discuss the utility of array CGH in various human genetic disorders, with a focus on autosomal recessive conditions.
Main Methods:
- Review of diagnostic laboratory data and technological advancements in array CGH.
- Focus on exonic SNP arrays for detecting intragenic and large DNA segment copy number changes.
- Analysis of array CGH applications across different inheritance patterns of human diseases.
Main Results:
- Exonic SNP arrays are powerful tools for detecting small copy number variants across the genome.
- These arrays efficiently identify CNVs in both dominant and recessive genetic disorders.
- Array CGH has proven valuable for diagnosing a wide range of human diseases.
Conclusions:
- Array CGH, particularly exonic SNP arrays, represents a significant advancement in clinical genetic testing.
- Whole-genome sequencing is emerging as a potential future integrated platform for comprehensive genetic analysis.
- Continued technological evolution promises more integrated and efficient diagnostic solutions for genetic disorders.
Keywords:
CMA in detecting AR disordersCNV in human diseasesExon-targeted array CGHUPDevolution of microarrayMore Related Videos
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