ArticleLaryngoscope investigative otolaryngology2020
Development of in-house genetic screening for pediatric hearing loss.
Article in Laryngoscope investigative otolaryngology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- SLC26A4 C.317C > A Variant: Functional Analysis and Patient-Derived Induced Pluripotent Stem Line Development.Molecular genetics & genomic medicine · 2025Article
- ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy.European journal of medical research · 2022Article
- Development of in-house genetic screening for pediatric hearing loss.Laryngoscope investigative otolaryngology · 2020Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
objectivesTo evaluate the efficiency of in-house genetic testing for mutations causing the most common types of inherited, nonsyndromic, sensorineural hearing loss (SNHL).
methodsRetrospective cohort study of 200 patients at a single, pediatric medical center with suspected or confirmed hearing loss who underwent either send out vs in-house genetic testing for mutations in GJB2/GJB6, SLC26A4, and MTRNR1. Primary outcome measure was the difference in mean turnaround time for send-out vs in-house genetic testing. Additional outcomes included associations between audiometric findings and genetic test results.
resultsOne hundred four send-out tests were performed between October 2010 and June 2014, and 100 in-house tests were performed between November 2014 and November 2016. The mean turnaround time for send-out testing was 53.7 days. The mean turnaround time for in-house testing was 18.9 days. This difference was statistically significant (
conclusionsThe development of in-house genetic testing programs for inherited SNHL can significantly reduce testing turnaround times. Newborn hearing screening and audiometry results can help clinicians identify patients most likely to benefit from genetic testing. LEVEL OF EVIDENCE: IV.
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Registered trials
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