Skin Disorders

Genetic skin diseases, or genodermatoses, are hereditary conditions that mainly affect the skin and its appendages. They are typically caused by single gene mutations which may be passed down from one or both parents, or by genetic mutations that occur during the development of sperm or egg cells in healthy parents. This heterogeneous group of disorders comprises nearly 300 individual clinical disorders, almost all of which are rare. Genetic skin disorders frequently occur at birth or very early in life, they are usually chronic conditions, many are severe, and some are even life-threatening.

The Northwell Health Genomics Alliance provides genetic testing for over 80 genetic skin disorders. A few of the commonly ordered genetic tests are listed below.


Commonly Ordered Tests



See All Tests for Skin Disorders