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Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders
- Source :
- BioMed Research International, Vol 2016 (2016), BioMed Research International
- Publication Year :
- 2016
- Publisher :
- Hindawi Limited, 2016.
-
Abstract
- Copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) significantly contribute to the etiology of neurodevelopmental disorders, such as developmental delay (DD), intellectual disability (ID), and autism spectrum disorder (ASD). This study summarizes the results of 3.5 years of CMA testing by a CLIA-certified clinical testing laboratory 5487 patients with neurodevelopmental conditions were clinically evaluated for rare copy number variants using a 2.8-million probe custom CMA optimized for the detection of CNVs associated with neurodevelopmental disorders. We report an overall detection rate of 29.4% in our neurodevelopmental cohort, which rises to nearly 33% when cases with DD/ID and/or MCA only are considered. The detection rate for the ASD cohort is also significant, at 25%. Additionally, we find that detection rate and pathogenic yield of CMA vary significantly depending on the primary indications for testing, the age of the individuals tested, and the specialty of the ordering doctor. We also report a significant difference between the detection rate on the ultrahigh resolution optimized array in comparison to the array from which it originated. This increase in detection can significantly contribute to the efficient and effective medical management of neurodevelopmental conditions in the clinic.
- Subjects :
- 0301 basic medicine
Male
Pediatrics
medicine.medical_specialty
Article Subject
Microarray
Adolescent
Autism Spectrum Disorder
Developmental Disabilities
Gene Dosage
lcsh:Medicine
General Biochemistry, Genetics and Molecular Biology
Chromosomes
Cohort Studies
03 medical and health sciences
Young Adult
Intellectual Disability
Intellectual disability
mental disorders
medicine
Chromosomes, Human
Humans
Copy-number variation
Child
Oligonucleotide Array Sequence Analysis
Chromosome Aberrations
General Immunology and Microbiology
business.industry
Clinical Laboratory Techniques
lcsh:R
Genetic Variation
General Medicine
medicine.disease
030104 developmental biology
Ultrahigh resolution
Autism spectrum disorder
Neurodevelopmental Disorders
Child, Preschool
Karyotyping
Cohort
Etiology
Female
business
Cohort study
Research Article
Subjects
Details
- Language :
- English
- ISSN :
- 23146141 and 23146133
- Volume :
- 2016
- Database :
- OpenAIRE
- Journal :
- BioMed Research International
- Accession number :
- edsair.doi.dedup.....ee2f1cd1548a295f4cd8b2471d1d9d85