Ehlers-Danlos syndrome (EDS) is a family of connective tissue disorders. Connective tissue is a composite mixture of proteins and other substances that gives the body’s underlying structures strength and elasticity. Read on to learn about EDS and the genetic testing choices available for your specific form of EDS.
EDS genetic diagnosis
Your medical history and a physical test are used to diagnose EDS. In other words, the geneticist (genetics doctor) will conduct a physical examination to assess your symptoms, including the flexibility of your joints and skin. The geneticist will review your medical background and your family’s medical history.
What are genetic testing choices available for EDS?
Genetic testing for EDS is available depending on the type of EDS the geneticist suspects you have. Even if testing is available, health insurance will not cover it. To find out how genetic testing is protected, speak with your geneticist or contact your health insurance company:
- If you have EDS Type 3, genetic testing is not needed because the diagnosis is made based on a physical examination. At this time, we don’t know which gene (section of your DNA) is responsible for the majority of cases of this form of EDS.
- Genetic testing is normally available via a blood test whether you have EDS Type I or Type II. However, the genetic test only detects about half of the cases (1 out of every 2). This form of EDS can also be diagnosed without testing by your geneticist.
- If we suspect you have EDS Type IV, we will discuss genetic testing for the COL3A1 gene responsible for this type of EDS.
Genetic Testing and Genomics
Ehlers-Danlos Syndrome Danlos Syndrome is a genetic disorder caused by one or more mutations.
Several firms, such as Gene Dx, may help with the genetic diagnosis of EDS and other heritable connective tissue disorders by studying genomic DNA. (Heritable Connective Tissue Disorders Panel) Gene Dx is unique in that it focuses on providing whole-exome sequencing and a comprehensive genetic testing panel to patients with rare diseases.
They also help with:
- Molecular verification of a clinical diagnosis in symptomatic people.
- Genetic therapy and recurrence risk determination for asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
Although some genes can be examined to help diagnose, particular forms of Ehlers Danlos, such as hypermobility form, do not currently have a known genetic cause. To be sure, a proper medical professional should conduct a comprehensive clinical study to make an accurate diagnosis.
EDS inheritance and genetics
EDS is linked to mutations in at least 19 different genes, with different mutations causing different types of EDS. The majority of these genes code for collagen or other proteins that regulate collagen production or processing. Mutations in them cause insufficient collagen levels to be produced, resulting in brittle connective tissue and the symptoms of EDS.
Disease-causing mutations can be inherited or appear de novo, which means they appear in a person whose parents do not have the mutation.
On the non-sex chromosomes, known as autosomes, each person has two copies of every gene. They get one copy from each of their parents. In certain cases, the disease-causing mutation must be present in both copies of the gene associated with EDS (autosomal dominant inheritance) (autosomal dominant inheritance). EDS (autosomal recessive inheritance) can often be caused by only one copy of a mutated gene (autosomal recessive inheritance).
What is the purpose of genetic testing?
The healthcare staff will review the patient’s symptoms, the family’s medical history and perform physical examinations to diagnose EDS. If a doctor suspects EDS, a genetic test might be ordered to validate the diagnosis.
The results of the genetic test can be used to:
- Confirm an EDS diagnosis
- Differentiate between the forms of EDS
- Identify EDS carriers in the affected individual’s family
Several EDS-associated genes can be tested in one test to see whether a genetic alteration (mutation) has occurred (mutation). There are 12 and 18 gene panels available. The study is performed on a blood sample.
To see if others in the family are affected, genetic testing of immediate and extended family members may be required.
Genetic counselors are trained professionals who can assist individuals and families in understanding the results of genetic tests, guiding discussions with other family members who may be at risk, and assisting in making treatment and disease management decisions for patients. They can also assist couples in making well-informed decisions about fertility, family planning, and pregnancy testing.
Chorionic villus sampling (CVS) can be used to diagnose EDS in the fetus during the early stages of pregnancy (10–12 weeks). Amniocentesis, which examines the amniotic fluid surrounding the fetus for any genetic changes, can be helpful in the later stages (13–20 weeks). In-vitro fertilization combined with a pre-implantation genetic diagnosis of the embryo can prevent EDS from being passed down from one generation to the next.
How is EDS passed down through the generations?
If one parent (mother or father) has EDS, each child has a 50% (1 out of 2) chance of having EDS. If a parent (father or mother) has EDS, there is a 50 percent (1 out of 2) chance that each baby will also have EDS.
With most types of EDS, each child of a parent with EDS has a 50% (1 out of 2) chance of having EDS as well. Even within the same family, not everyone with EDS is affected differently. This is because each person with EDS has their own set of symptoms. The type of EDS does not change within the same family.