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Review
. 2025 Apr 12:1-11.
doi: 10.25259/IJDVL_500_2024. Online ahead of print.

Genetics for dermatologists. Part 2: Clinical evaluation, sequencing technologies and interpretation

Divya Gupta  1   2 , Tim George Jose  2 , Gurudatta Baraka Vishwanathan  3
Affiliations
Free article
Review

Genetics for dermatologists. Part 2: Clinical evaluation, sequencing technologies and interpretation

Divya Gupta et al. Indian J Dermatol Venereol Leprol. .
Free article

Abstract

Genomic sequencing technologies have revolutionised the diagnostic approach to genodermatoses, facilitating precise diagnosis, offering unparalleled insights into pathogenesis, and guiding personalised treatment strategies. In this article, we provide an outline for clinical evaluation, how to choose the most suitable genetic test for different dermatological presentations and examine indications for single-gene tests, gene panels, whole exome, and whole genome sequencing. We then delve into sequencing technologies, including next-generation sequencing (NGS) and its various platforms, detailing their strengths, limitations, and clinical applications. By understanding these technologies, clinicians will be better equipped to interpret test results accurately and collaborate with genetic counsellors and laboratory experts effectively.

Keywords: Genodermatoses; next-generation sequencing; sanger sequencing; variant classification.

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References

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