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.
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The clinical utiliy of cancer genomics in patient diagnosis and management is multifaceted; genetics are...
Carrier screening is a type of genetic testing performed on people who display no symptoms for a genetic...
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Inherited neuropathies are a large group of genetically and phenotypically heterogeneous...
Disorders of sex differentiation, also known as disorders of sex development (DSD)...
A dysmorphic feature is a difference of body structure. It can be an isolated finding in an otherwise...
Disorders of the endocrine system result in an imbalance of hormones which may be caused when the...
Genetic factors play a role in many kinds of eye disease, including those diseases that are the...
Some disorders of the blood are hereditary, meaning they are passed down from generation to...
Immunodeficiencies occur when part of the immune system does not function properly. The most...
Inherited metabolic disorders are genetic conditions that result in metabolism problems...
A common factor among mitochondrial diseases is that the mitochondria are unable to...
While most renal disorders are not hereditary, some kidney conditions have known hereditary genetic...
There are more than 100 rheumatic diseases and some have a genetic causative component...
Genetic disorders affecting the skeleton comprise a large group of clinically distinct and...
Genetic skin diseases, or genodermatoses, are hereditary conditions that mainly affect...
An HLA (human leukocyte antigen) disease association is defined as a statistically increased...
Special coagulation testing investigates the blood's ability to clot, and how long it takes...