A member asked:

Is their a gene specifically associated with the hypermobile form of ehleres- danlos syndrome? and is it one that is able to be tested ?

4 doctors weighed in across 3 answers

Yes and no: There are many types or forms of the disease. Type 3 is the most common with no gene testing available. The other forms can be tested. This is a specialized test, not all labs do it and some labs only perform certain of the testing.

Answered 9/10/2017

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See geneticist!: Type 3: hypermobility form - ehlers-danlos is caused by an autosomal dominant or recessive mechanism. Mutations in either of two separate genes (which are also involved in vascular eds and tenascin-x deficiency eds, respectively) may lead to this variant. Tnxb sequencing or quantitative serum tenascin-x analysis or testing of eds-associated genes, especially col3a1can be done.

Answered 1/30/2019

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Dr. Johanna Fricke answered

Specializes in Pediatrics - Developmental and Behavioral

Yes, two: Hypermobility type (iii) is autosomal dominant with 50% chance of mutations in col3a1 (collagen) & tnxb (tenascin xb) genes. See genedx.Org & geneticsalliance.Org to find labs that test for these; you can call genetics alliance to be connected to information & support groups. Ednf.Org will help you, also.

Answered 12/9/2013

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Related Questions

A member asked:

Can you have ehlers danlos without hypermobile joints?

3 doctors weighed in across 2 answers