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Topic: Genetics

An ectodermal dysplasia is caused by a change(s) in a gene, called a variant. The NFED advocates that affected individuals work with a geneticist or genetics counselor to get genetic testing. Genetics can be very complex and you should always discuss your specific test with your genetics professional and direct your questions to them.

In this article, we provide some general information to help you better understand what it might mean if your genetic test results come back as Variant of Unknown Significance (VUS). It is informational only. Genetics counselor Pilar Magoulas explains how genes can change and how the range of effects that can happen in the body as a result.

Download this article for information on the following:

Variant Nomenclature

Learn how a variant in a genetic test is reported. We all have variants in our genes, which is what makes us unique! Some are benign and unlikely to cause a genetic condition while others are what’s called pathogenic and known to cause a genetic condition.

Types of Variants

You will read about the different types of variants and and how they can impact the meaning of a gene and the protein that is supposed to code for. Learn about deletions, misspellings and nonsense.

Variants of Uncertain Significance

If a gene change is found but has not been seen before or reported in the medical literature, it can make it very hard to interpret the results. Find how testing other family members may help. Pilar addresses the three genetic tests results that may come back and how a professional will interpret them.

If you or your child’s test comes back negative or with a VUS this does NOT necessarily mean that you/your child does not have an ectodermal dysplasia. Read the article to learn about what it could mean.

Disclaimer:

The content of this document is for informational purposes only. This article should not be a replacement for having a conversation with a geneticist or genetics counselor about the interpretation of specific genetic test results because it can be quite complex. These discussions should take place by the provider who knows the clinical features and history of the person and they can interpret their results in that context.

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