Find much needed clarity for bone, skin and immune conditions with a genetic basis

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

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Genetic testing for bone, skin and immune indications

Patients that present with symptoms of a suspected bone, skin or immune disease can be tested with our comprehensive and rapid genetic diagnostics.

Order your genetic test for bone, skin and immune system disorders

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Symptoms related to a genetic cause

Disorders of the bone, skin and immune system are three areas where the severity and underlying effects of the disease are extremely wide-ranging and highly variable, with many different genes involved. Some well-known examples include Marfan syndrome, homocystinuria, and osteogenesis imperfecta.
Major clinical features of undifferentiated connective tissue diseases include symptoms related to skin, immune and cartilage/bone tissues. Connective tissue diseases involve the protein-rich tissue that supports organs and other parts of the body; as well as joints/bones, muscles and skin they can also involve other organs and organ systems, including eyes, heart, lungs, kidneys, gastrointestinal tract or blood vessels. Genetic disorders of connective tissue comprise a rapidly expanding list of Mendelian syndromes that can manifest with significantly overlapping clinical findings1.

Referral reasons

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

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

  • Individuals without a positive family history but with symptoms resembling the specific disease indication

  • Individuals with a negative, but suspected, family history, in order to perform genetic counseling (prenatal analyses are recommended in families of affected individuals)

Diagnostic strategy

Confirmation of a clinical diagnosis through genetic testing allows for genetic counseling and may lead to immediate medical management. For each presented case and phenotype, a full medical report will be produced including a tailored diagnostic strategy, recommendations and a differential diagnosis, if applicable.

Clinical symptoms are not always the product of the same gene or genetic variation; any diagnosis is determined as a combination of the in-depth clinical information provided and the identified genetic cause.

What do we know about bone, skin and immune diseases?

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

Hereditary connective tissue diseases are rare compared with the acquired connective tissue diseases; hence disorders of the body’s connective tissue are frequently mis- or undiagnosed. Multiple genes are implicated and the same gene can produce very different effects in different people.

In addition, researchers believe disorders may be triggered by an event in the immune system which produces an autoimmune response; patients with certain genetic factors may be predisposed to such disorders. For diseases that fall into these categories, genetic testing is the ultimate diagnostic tool.

Some of the better known skin, bone and immune disorders include Marfan syndrome (the most common inherited connective tissue disorder at about 15 cases per 1,000,000 population2), homocystonuria, Ehlers-Danlos synndrome, Osteogenesis imperfecta and alkaptonuria.

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

Scientific Articles on Bone, Skin & Immune Diseases

  • Cornelia de Lange syndrome panel

    Cornelia de Lange syndrome (CdLS) is a rare inherited multisystem developmental disorder characterized by distinctive craniofacial features, growth retardation with prenatal onset, intellectual disability, limb malformations, hirsutism, sensorineural hearing loss, myopia, nystagmus and…

  • Neurofibromatosis panel

    Neurofibromatoses (NF) are a group of disorders characterized by the development of tumors in the nervous system. These benign tumors develop on the nerve sheath and are known as neurofibromas. Other findings include skin and bone abnormalities. The severity of the disease varies considerably even…

  • Ehlers-Danlos syndrome and related disorders gene panel

    Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. The signs and symptoms of EDS are highly variable, ranging from mild to life-threatening complications.

What can CENTOGENE do for you and your patients

CENTOGENE is a global leader in the diagnosis of rare hereditary genetic diseases and has received multiple international accreditations (ISO, CAP and CLIA) that confirm the highest standards for diagnostic testing and reporting. Our experience combined with our scientific expertise and medical competence has allowed the application of state-of-the-art technologies and the development of a unique, multi-ethnic mutation database.

CentoMD® is the world’s largest mutation database for rare diseases, 57% of which is made up of unpublished variants. We carefully curate and documented all variants that have clinical relevance for related symptoms, allowing the most comprehensive diagnosis of a reproductive disease.

Overview of undifferentiated connective tissue diseases that can be genetically diagnosed at CENTOGENE


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  1. Murphy-Ryan, M., Psychogios, A., & Lindor, N. M. (2010). Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis. Genetics in Medicine, 12(6), 344-354.
  2. Groth, Kristian A., et al. "Prevalence, incidence, and age at diagnosis in Marfan Syndrome." Orphanet journal of rare diseases 10.1 (2015): 1.
  3. What Is Marfan Syndrome?". NHLBI, NIH. October 1, 2010.

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