Skip to main content
Quest Diagnostics

From Variant of Unknown Significance to Actionable Diagnosis: Stepwise Interpretation of a Novel KRT2 Variant in Superficial Epidermolytic Ichthyosis With Excellent Retinoid Response

From Variant of Unknown Significance to Actionable Diagnosis: Stepwise Interpretation of a Novel KRT2 Variant in Superficial Epidermolytic Ichthyosis With Excellent Retinoid Response

Authors: Bobica AC, Moussa S, Ouchene L, Udupa M, BinJadeed H, Bashihab R, Misiewicz Z, Grönroos L, Powell J, Chergui M, Marino TC, Foulkes WD, Netchiporouk E

Citation: JAAD Int. 2025 Oct 1;24:16-19. doi: 10.1016/j.jdin.2025.09.006

Specialties: Genetics, Dermatology

Disclaimer: One or more of the authors of this publication were employed at the time by DermPath Diagnostics, a subsidiary of Quest Diagnostics.

Related content

Publication
A Primer on Regulation of Laboratory-Developed Testing Procedures: A Points to Consider Statement of the American College of Medical Genetics and Genomics (ACMG)
Audio Podcast
The Future of Laboratory Diagnostic Medicine
Audio Podcast
The power of laboratory analytics

Our company

Quest® is the brand name used for services offered by Quest Diagnostics Incorporated and its affiliated companies. Quest Diagnostics Incorporated and certain affiliates are CLIA-certified laboratories that provide HIPAA-covered services.  Other affiliates operated under the Quest® brand, such as Quest Consumer Inc., do not provide HIPAA-covered services. 

 

Quest®, Quest Diagnostics®, any associated logos, and all associated Quest Diagnostics registered or unregistered trademarks are the property of Quest Diagnostics. All third-party marks—® and ™—are the property of their respective owners. © 2025 Quest Diagnostics Incorporated. All rights reserved. Image content features models and is intended for illustrative purposes only.