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Updated: May 5, 2026
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH
Jillian Nicholl1, Wendy Waters, John C Mulley
11Cytogenetics, Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide 2Molecular Genetics, Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide 3School of Molecular and Biomedical Sciences, The University of Adelaide 4School of Paediatrics and Reproductive Health, The University of Adelaide 5South Australian Clinical Genetics Service, SA Pathology at Women's and Children's Hospital, North Adelaide 6Centre for Disability Health, North East Clinic, Modbury Hospital, Adelaide 7Ashford Medical Centre, Ashford, Adelaide 8Flinders Medical Centre, Bedford Park 9Calvary Hospital, North Adelaide 10Women's and Children's Health Network, North Adelaide 11Parks Community Health Service, Angle Park, South Australia, Australia 12see Acknowledgements for all members.
Array comparative genomic hybridization (CGH) offers higher diagnostic sensitivity for detecting chromosomal microdeletions and microduplications in developmental delay, intellectual disability, and autism spectrum disorders. This method improves genetic counseling by precisely identifying molecular defects.
Area of Science:
- Genetics
- Molecular Biology
- Developmental Biology
Background:
- Developmental delay (DD), intellectual disability (ID), and autism spectrum disorders (ASD) often have underlying genetic causes.
- Conventional cytogenetic testing has limitations in detecting smaller chromosomal abnormalities.
Purpose of the Study:
- To prospectively determine the frequency of pathogenic chromosomal microdeletions and microduplications in patients with DD, ID, or ASD.
- To evaluate the diagnostic utility of array comparative genomic hybridization (CGH) as a first-tier test.
Main Methods:
- Utilized a standardized oligo-array CGH platform for genetic testing.
- Analyzed copy number variants (CNVs) and categorized them into established pathogenic, predicted pathogenic, and susceptibility CNVs.
Main Results:
- Detection rates for pathogenic CNVs were: DD (13.0%), ID (15.6%), ASD (2.3%), ASD with DD (8.2%), ASD with ID (12.7%), and epilepsy with DD/ID/ASD (10.9%).
- Array CGH demonstrated greater diagnostic sensitivity compared to conventional cytogenetics.
Conclusions:
- Routine use of array CGH significantly enhances the detection of pathogenic CNVs in patients with neurodevelopmental disorders.
- Precise molecular diagnosis through array CGH leads to improved genetic counseling and patient management.
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