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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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Perspective on the technical challenges involved in the implementation of array-CGH in prenatal diagnostic testing
Jonathan L A Callaway1, Shuwen Huang, Evangelia Karampetsou
1Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK, jonathan.callaway@salisbury.nhs.uk.
Molecular Biotechnology
|October 23, 2013
Summary
This study outlines an optimized workflow for prenatal array comparative genomic hybridization (array-CGH) testing. Genetics labs can now implement array-CGH without compromising standard karyotype results.
Area of Science:
- Prenatal Diagnostics
- Genomic Hybridization
- Molecular Biology
Background:
- Array comparative genomic hybridization (array-CGH) is under evaluation for prenatal diagnostics.
- Standardized workflows are needed to integrate array-CGH into clinical practice.
- Optimizing DNA extraction and quantification is crucial for reliable prenatal testing.
Purpose of the Study:
- To develop a streamlined technical workflow for prenatal array-CGH.
- To evaluate DNA extraction and quantification methods for minimal sample inputs.
- To establish optimal conditions for performing array-CGH in prenatal diagnosis.
Main Methods:
- Comparison of commercial DNA extraction and quantification kits using amniotic fluid, chorionic villi, and cultured cells.
- Optimization of DNA input for array-CGH using the OGT CytoSure™ ISCA 8 × 60 K oligo array platform.
- Evaluation of iGENatal™ kit for DNA extraction and Qubit® 2.0 Fluorometer for quantification.
Main Results:
- An optimized workflow was identified using the iGENatal™ kit and Qubit® 2.0 Fluorometer for DNA extraction and quantification.
- Array-CGH can be successfully performed with as little as 125 ng of DNA.
- The workflow is effective with minimal sample quantities: 2-4 ml amniotic fluid, 2-5 mg chorionic villi, or <150,000 cultured cells.
Conclusions:
- A validated technical workflow enables genetics laboratories to adopt prenatal array-CGH testing.
- This approach facilitates prospective, multi-center evaluation of array-CGH in prenatal diagnostics.
- The recommended workflow ensures array-CGH results do not compromise conventional karyotype outcomes.
