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

  • Publications about genetic testing for metabolic disorders

    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

  • B-negative SCID panel

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

  • Periodic fever syndrome

    Periodic fever syndrome is a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. The main inherited periodic fever syndromes are familial Mediterranean fever (FMF) caused by pathogenic variants in MEFV, periodic fever, familial caused by pathogenic…

  • Waardenburg syndrome

    Waardenburg syndrome (WS) is an auditory-pigmentary disorder characterized by congenital sensorineural hearing loss and pigmentary abnormalities of the iris, skin and hair, and with dystopia canthorum. There are four known types of Waardenburg syndrome which are distinguished by their physical…