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Skin, Bones & Immune

Find the necessary clarity for bone, skin and immune conditions with a genetic basis

Discover the genetic details of the specific conditions of the bone, the skin or the immune system, for a clear diagnosis and a way forward.


Many genetic disorders of the skin, bones and immune system cause skeletal and joint abnormalities that can seriously interfere with normal growth and development.


Hereditary connective tissue diseases are rare compared to acquired diseases of the connective tissue; therefore, connective tissue disorders of the body are often misdiagnosed or not. Multiple genes are involved and the same gene can produce very different effects in different people.

In addition, researchers believe that disorders can be triggered by an event in the immune system that produces an autoimmune response; Patients with certain genetic factors may be predisposed to such disorders. For the diseases that fall into these categories, genetic tests are the definitive diagnostic tool.


Some of the most well-known skin, bone and immune system disorders include Marfan syndrome (the most common inherited disorder of connective tissue in approximately 15 cases per 1,000,000 population2), homocystonuria, Ehlers-Danlos syndrome, osteogenesis imperfect and alcaptonuria.


Marfan syndrome is an autosomal dominant disorder, 75% of cases are inherited from a father, while 25% of cases are new mutations3.

Reasons for Reference


  • Individuals presenting the most common symptoms of a bone, skin and immune disease.

  • People with a positive family history of bone, skin and immune disease.

  • Individuals without a positive family history but with symptoms that resemble the indication of a specific disease.

  • Individuals with a negative family history, but suspicious, to perform genetic counseling (prenatal tests are recommended in families of affected individuals).

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