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Update on Clinically Relevant Genetic Testing in Pediatric Dermatology.
Kevin P Boyd1, Faizal Z Asumda2, Jennifer L Hand3
1Department of Dermatology, Mayo Clinic, 200 1st Street Southwest, Rochester, MN 55905, USA.
Dermatologic Clinics
|November 20, 2021
Summary
Clinical genetic testing aids in diagnosing inherited diseases. This review focuses on advanced genetic tests beneficial for pediatric dermatologists diagnosing skin conditions.
Area of Science:
- Genetics
- Dermatology
- Medical Diagnostics
Background:
- Clinical genetic testing identifies gene mutations linked to diseases.
- Recent advancements have expanded the range of available diagnostic tests.
- Targeted genetic testing is effective for diagnosing known genetic syndromes with skin manifestations.
Purpose of the Study:
- To review major genetic testing technologies.
- To highlight tests most relevant for pediatric dermatologists.
- To aid in diagnosing genetic diseases with cutaneous symptoms.
Main Methods:
- Review of current genetic testing technologies.
- Focus on applications in pediatric dermatology.
- Analysis of diagnostic yield for various genetic tests.
Main Results:
- Various genetic testing technologies are available for clinical use.
- Targeted mutation analysis offers efficient diagnosis for specific syndromes.
- Broader genetic testing options exist when initial tests are inconclusive.
Conclusions:
- Genetic testing is crucial for diagnosing hereditary diseases.
- Pediatric dermatologists can benefit from understanding advanced genetic tests.
- The choice of genetic test depends on the clinical presentation and suspected diagnosis.
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