Genetic Testing and Genetic Counseling

Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the connective tissue in the blood vessels, skin, joints, and organs.

Mutations in at least 20 different genes have been linked to the development of EDS, with different specific mutations linked to different types of EDS. These mutations may be inherited from a person’s biological parents, or they may have occurred randomly in the affected individual (referred to as de novo mutations).

Genetic testing can be used to look for EDS-causing mutations in a person’s DNA, which may be helpful in diagnosing EDS and determining the disease type. It also may help to identify people who don’t have EDS themselves, but are at risk of passing the disease to their biological children. Genetic testing is usually done with a sample of blood or a cheek swab.

Of note, because not all EDS-causing mutations have been identified, a negative genetic test does not guarantee that an individual does not have EDS.

How is EDS inherited?

Depending on the specific type of mutation, EDS is inherited in either an autosomal dominant or autosomal recessive manner. In dominant inheritance, one mutated copy of the gene — from one parent — is sufficient to cause disease.

In recessive inheritance, both copies of the gene — one inherited from each biological parent — must be mutated for the disease to develop. People with just one mutated gene are called “carriers” because they won’t develop the condition, but may pass the disease-causing mutation to their biological children. In addition to diagnosing patients, genetic testing can be used to identify carriers.

What is genetic counseling?

Genetic counselors are healthcare professionals with special training in medical genetics and counseling. They help patients and families to understand the risks and benefits of genetic testing, and help to interpret the results of tests. They also work with patients, families, and clinicians to help develop management plans, and can provide support and resources.

For people who want to have biological children and have a family history of EDS, genetic counselors can help to explain the potential risks of passing the disease to their progeny. Genetic counselors also can help prospective parents understand the various options available to them to avoid passing a mutation to a child. One such option is in-vitro fertilization with pre-implantation genetic testing. Additionally, counselors can help prospective parents to diagnose the disease before their child’s birth, via such tests as chorionic villus sampling, often called CVS, and amniocentesis.

 

Last updated: Feb. 2, 2022, by Marisa Wexler MS

 


Ehlers-Danlos News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.