Document Detail

Clinical Utility of Chromosomal Microarray Analysis.
MedLine Citation:
PMID:  23071206     Owner:  NLM     Status:  Publisher    
OBJECTIVE:To test the hypothesis that chromosomal microarray analysis frequently diagnoses conditions that require specific medical follow-up and that referring physicians respond appropriately to abnormal test results.METHODS:A total of 46 298 postnatal patients were tested by chromosomal microarray analysis for a variety of indications, most commonly intellectual disability/developmental delay, congenital anomalies, dysmorphic features, and neurobehavioral problems. The frequency of detection of abnormalities associated with actionable clinical features was tallied, and the rate of physician response to a subset of abnormal tests results was monitored.RESULTS:A total of 2088 diagnoses were made of more than 100 different disorders that have specific clinical features that warrant follow-up. The detection rate for these conditions using high-resolution whole-genome microarrays was 5.4%, which translates to 35% of all clinically significant abnormal test results identified in our laboratory. In a subset of cases monitored for physician response, appropriate clinical action was taken more than 90% of the time as a direct result of the microarray finding.CONCLUSIONS:The disorders diagnosed by chromosomal microarray analysis frequently have clinical features that need medical attention, and physicians respond to the diagnoses with specific clinical actions, thus arguing that microarray testing provides clinical utility for a significant number of patients tested.
Jay W Ellison; J Britt Ravnan; Jill A Rosenfeld; S Annie Morton; Nicholas J Neill; Marc S Williams; Jodi Lewis; Beth S Torchia; Cathryn Walker; Ryan N Traylor; Kimberly Moles; Elizabeth Miller; Jennifer Lantz; Caitlin Valentin; Sara L Minier; Kimberly Leiser; Berkley R Powell; Timothy M Wilks; Lisa G Shaffer
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-15
Journal Detail:
Title:  Pediatrics     Volume:  -     ISSN:  1098-4275     ISO Abbreviation:  Pediatrics     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0376422     Medline TA:  Pediatrics     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington;
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