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
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…
Albinism is an inherited genetic condition that reduces the amount of melanin pigment formed in the eyes, skin, and/or hair. The most common form of albinism is oculocutaneous albinism (OCA), a group of autosomal recessive disorders caused by a reduction of melanin biosynthesis in the melanocytes…
Up to one third of all babies and children admitted to the intensive care unit (ICU) have a genetic disease. For many of them early identification can make a difference for their immediate and later health.
CentoICU®: NGS panels for the early and fast diagnosis of critically ill newborns & children under 24 months
Genetic disorders are diseases with the most complex presentation of the most diverse symptoms and also the most severe disease courses. A precise diagnosis of the underlying condition is especially important in serious and life threatening situations as found in the intensive care setting.
Here we report the first human skeletal ciliopathy associated with a nonsense variant in IFT52, encoding an IFT-B core complex protein.