The National Foundation for Ectodermal Dysplasias, just 25 years ago, began supporting research.  The research was to identify the genes which cause the 180+ ectodermal dysplasias. Those efforts have paid off. We know many of the causative genes for many of these conditions, but not all. We still have lots of work to do!

One of the benefits of knowing which gene causes a specific type of ectodermal dysplasia is that it often gives your family the option for genetic testing.  A specific diagnosis will be important to your family when new treatments and potential cures become available.  Testing often helps confirm a doctor’s diagnosis based on family history and the physical symptoms observed.

Genetic Tests

Today, there are genetic tests for 60 types of ectodermal dysplasias. Your doctor can order the testing from a laboratory and interpret the results for you and your family.  GeneTests is an online resource that identifies laboratories which have the ability to conduct testing for the various ectodermal dysplasias.  Please refer your health care provider to this site, if needed, as you consider genetic testing.

The cost for testing varies. Be sure to check with your insurance company in advance to see what expenses it will cover. Genes In Life provides information on insurance coverage and basic explanations.

Talk with your health care provider to determine if genetic testing is right for you and your family.

4 comments on “Is There a Genetic Test For Your Type of Ectodermal Dysplasia?”

  1. 1
    Lissa Arroyo on January 25, 2020

    Hi ! I have a family who 2 of her kids is been diagnosed with Ectodermal dysplasia but they did 2 genetic test and were negative for this condition. Lo try to help looking for other opinion. Other condition they suspect is Nemo. If you can help me I wil appreciate. This is important for us. Thank you.

  2. 2
    Mary Fete on January 26, 2020

    Hi Lissa, It is important to know what genetic test they ran… what gene did they look for as there are many different genes. Is the family seeing a geneticist? you can email me at mary@nfed.org

  3. 3
    Shaun rathbun on March 2, 2022

    I need a name of a laboratory that conducts these tests. Searching the internet for this is like walking through a maze.. why does this have to be so hard? I’m having medical issues and all the doctors im seeing have never even heard of my syndrome and they all keep asking for medical records that I don’t have that died with my mother. I just need the names of some laboratory

    1. 4
      Veronica Minard on March 4, 2022

      Hi, Shaun: First, you will want to make sure the test you use will include the gene responsible for your syndrome. I would suggest you contact Kelley, our director of family and community programs, at kelley@nfed.org and provide her with your specific syndrome. She can provide further direction on testing and also resources for you to share with your health care providers about ectodermal dysplasias. She may even be able to connect you with a provider who has worked with ectodermal dysplasia patients before, depending on where you live. Thanks, Veronica.

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