1. Articles on bone, skin & immune

Bone, skin & immune

Genetic testing for inherited bone, skin or immune diseases provides rapid and comprehensive information to aid the diagnosis of these conditions. Early diagnosis opens up the possibilities for selecting optimal treatments and in addition prediction of disease progression.

Articles on bone, skin & immune

  • 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.

  • Fanconi anemia

    Fanconi Anemia (FA) is a rare inherited chromosome breakage syndrome characterized by physical abnormalities, bone marrow failure, and an increased risk of development of various malignancies. FA is the most common genetic cause of aplastic anemia and is one of the most common genetic causes of…

  • B-positive SCID panel

    Severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a block in T lymphocyte differentiation