Does Ehlers-Danlos show up on genetic testing?

Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems.

How accurate is genetic testing for EDS?

If you have EDS Type I or Type II, genetic testing is usually available through a blood test. But, the genetic test only finds about 50% (1 out of every 2) of cases. Your geneticist can also diagnose this type of EDS without testing.

Is there a gene for Ehlers-Danlos syndrome?

Mutations in at least 20 genes have been found to cause the Ehlers-Danlos syndromes. Mutations in the COL5A1 or COL5A2 gene, or rarely in the COL1A1 gene, can cause the classical type.

Can 23andMe diagnose EDS?

23andMe does not offer diagnostic testing. For testing related to a personal or family history of a particular genetic disease, please consult a healthcare provider in order to ensure that you are pursuing the most appropriate test for your personal situation.

Can Ehlers-Danlos syndrome skip a generation?

This person could then go on to have an affected child, which may make the disease appear to have skipped a generation. In reality, the altered gene did not skip a generation at all, but the symptoms of the disease were mild or went undetected so that it may have appeared to miss a generation.

Can you have EDS without family history?

EDS can be inherited, but in some cases it occurs by chance in someone without a family history of the condition.

Can you have mild Ehlers-Danlos?

It can be mild and is probably often undiagnosed. However many people with hEDS have significant or even severe pain and disability. The main symptoms of hEDS are stretchy skin (which is not fragile but which may heal slowly) and unusually flexible joints. Many people with hEDS have tiredness, pain and mood changes.

What kind of doctor can diagnose Ehlers-Danlos?

Most medical doctors should be able to diagnose EDS and HSD. However, because the Ehlers-Danlos syndromes are genetic disorders, primary care physicians often provide their patients with referrals to a geneticist.

Do collagen supplements help EDS?

Bottom Line: No established research or clinical experience has proven that collagen supplementation is helpful for persons with EDS! Theoretically, a diet adequate in glycine, proline, lysine, and vitamin C (or supplementation) would support collagen biosynthesis.

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