Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders
Karen S Ho1, Hope Twede2, Rena Vanzo2
1Lineagen, Inc., Salt Lake City, UT, USA; Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
Biomed Research International
|December 16, 2016
Summary
Chromosomal microarray analysis (CMA) detects copy number variants (CNVs) in nearly 33% of neurodevelopmental disorder cases. This diagnostic tool significantly aids in managing developmental delay, intellectual disability, and autism spectrum disorder.
Area of Science:
- Genetics
- Clinical Diagnostics
Background:
- Copy number variants (CNVs) are key genetic contributors to neurodevelopmental disorders (NDDs).
- Chromosomal microarray analysis (CMA) is a primary diagnostic tool for identifying these CNVs.
Purpose of the Study:
- To evaluate the diagnostic yield of a custom, high-resolution CMA for NDDs.
- To analyze factors influencing CMA detection rates and pathogenic yield.
Main Methods:
- Analysis of 3.5 years of CMA testing data from 5487 patients with NDDs.
- Utilized a 2.8-million probe custom CMA optimized for NDD-associated CNVs.
Main Results:
- Overall CMA detection rate of 29.4% in the NDD cohort, reaching 33% for developmental delay/intellectual disability.
- Significant detection rate of 25% in the autism spectrum disorder cohort.
- Detection rates varied by indication, age, and ordering physician specialty; improved with ultrahigh-resolution arrays.
Conclusions:
- High-resolution CMA is effective in diagnosing CNVs in NDDs.
- CMA results significantly impact clinical management strategies for affected individuals.
- Optimized CMA arrays enhance diagnostic yield for neurodevelopmental conditions.
