Journal article
Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots
Otolaryngology--head and neck surgery, Vol.159(6), pp.1058-1060
12/2018
DOI: 10.1177/0194599818797291
PMID: 30149782
Abstract
Comprehensive genetic testing has become integral in the evaluation of children with deafness, but the amount of blood required to obtain DNA can be prohibitive in newborns. Dried blood spots (DBSs) are routinely collected and would provide an alternative source of DNA. Our objective was to evaluate the use of DBSs for comprehensive genetic testing for deafness. DNA derived from fresh and archived DBS samples was compared with DNA from whole blood. We performed next-generation sequencing of all known deafness genes in 4 DBS samples: 2 positive controls, an unknown sample, and a negative control. The DBS-derived DNA was of sufficient quantity and quality for clinical testing. In the 2 positive control samples, pathogenic variants were identified; in the negative control, no pathogenic variants were found; and in the unknown sample, homozygous deletion of the
gene was identified as the cause of deafness. This pilot study shows that comprehensive genetic testing for deafness is feasible with fresh and/or archived DBSs.
Details
- Title: Subtitle
- Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots
- Creators
- A Eliot Shearer - Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USAKathy Frees - Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USADiana L Kolbe - Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USARichard J H Smith - Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, USA
- Resource Type
- Journal article
- Publication Details
- Otolaryngology--head and neck surgery, Vol.159(6), pp.1058-1060
- DOI
- 10.1177/0194599818797291
- PMID
- 30149782
- NLM abbreviation
- Otolaryngol Head Neck Surg
- ISSN
- 0194-5998
- eISSN
- 1097-6817
- Publisher
- England
- Grant note
- R01 DC003544 / NIDCD NIH HHS R01 DC012049 / NIDCD NIH HHS R01 DC002842 / NIDCD NIH HHS
- Language
- English
- Date published
- 12/2018
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine; Iowa Institute of Human Genetics
- Record Identifier
- 9984007166102771
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