Genetic Testing Information
Please select an option to see relevant testing resources. More to come.
We will add more regions soon.
Please email if you have relevant information: skin.edd.database@gmail.com
How to order a Genetic Test in England
All dermatologists can request a genetic tests for patients they suspect to have an EDD. Many patients don't have a genetic result and this means they can't take part in research.
Testing uses whole exome sequencing and doesn't require discussion with clinical genetics.
In the vast majority of cases it is as simple as:
- Record consent. Your local genomics hub (GLH) will have the form. An example is here
- Take blood from the patient usually the same bottle as an FBC
- Fill in request form with the test number
Consult the test finder below for the information you need.
Test Finder
Use this to find the test number, what genes are included and local genomics hub.
See resources below for further information
British Association of Dermatologists overview of genomic testing
NHS Gene Panels
Testing is done on large curated panels of genes, you don't need to know what is on them to order a test, but if you are interested:
Testing eligibility in England
As of 2025 all patients with an EDD, apart from ichthyosis vulgaris should have a genetic test. Look at this PDF for the latest indications for ordering genetic tests in England.
GeNotes
Resources from NHS England Genomics Education, including clinical scenarios and knowledge hub articles.