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Molecular diagnostics for hereditary hearing loss in children
Manou Sommen1, Wim Wuyts1, Guy Van Camp1
1a Center of Medical Genetics , University of Antwerp & Antwerp University Hospital , Antwerp , Belgium.
Expert Review of Molecular Diagnostics
|June 9, 2017
Summary
Next-generation sequencing (NGS) advances hearing loss (HL) diagnostics by enabling simultaneous testing of multiple genes. Challenges like pseudogenic interference and copy number variant analysis require further research for comprehensive molecular testing.
Area of Science:
- Genetics
- Audiology
- Molecular Diagnostics
Background:
- Hearing loss (HL) is a common birth defect with significant impacts.
- HL is genetically heterogeneous, making molecular testing complex.
- Next-generation sequencing (NGS) has improved HL genetic diagnostics.
Purpose of the Study:
- To evaluate the utility of NGS for HL molecular testing.
- To discuss current challenges in comprehensive HL genetic analysis.
- To identify future directions for personalized HL diagnostics.
Main Methods:
- Review of current literature on NGS applications in HL.
- Analysis of diagnostic yield and limitations of NGS assays.
- Discussion of technical challenges in genetic variant detection.
Main Results:
- NGS is appropriate for heterogeneous diseases like HL.
- Current NGS methods face challenges including pseudogenic background and copy number variant analysis.
- Diagnostic yield of NGS for HL is improving but has limitations.
Conclusions:
- NGS offers significant potential for advancing HL molecular diagnostics.
- Overcoming technical hurdles is crucial for maximizing NGS utility.
- Developing population-specific mutation databases is essential for personalized HL testing.
