Immune deficiencies NGS panel
Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. To investigate hereditary causes of immunodeficiencies five targeted NGS panels have been constructed.
Mote information will be added to these panels shortly. In the meantime, please use the tab 'contact and form' to use our servces.
Rapid service and quick turn-around-time
The results will be available within 3 to 4 weeks.
We offer prenatal testing only for cases brought to us by a local genetic laboratory where the maternal cell contamination studies have been done.
Neutropenia is a group of disorders caused by an abnormally low concentration of neutrophils. Patients with neutropenia are more susceptible to bacterial infections. Neutropenia can be either congenital or acquired. Congenital neutropenia encompasses a family of neutropenic disorders, which can be mild or severe.
Chronic granulomatous disease and other microbial killing defects
Chronic granulomatous disease (CGD) is a rare, inherited disorder that causes the immune system to malfunction, leaving the body vulnerable to certain types of bacteria and fungi. The prevalence of CGD is approximately 1:250,000. CGD is caused by pathogenic variants in any one of the five components of the NADPH oxidase in phagocytic leucocytes. This enzyme generates superoxide and is essential for intracellular killing of pathogens by phagocytes.
Other rare inheritable killing disorders like CARD9 and CEBPE deficiency are also included.
Leukocyte adhesion deficiency and chemotaxis disorders
Leukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder caused by defects in the adhesion of leukocytes to the blood vessel wall. Patients with LAD suffer from severe bacterial infections and impaired wound healing, accompanied by neutrophilia. LAD is currently divided into three subtypes: LAD-I, LAD-II and LAD-III.
Bone marrow failure and additional blood diseases
Inherited bone marrow failure syndromes are genetic disorders characterized by the inability of the bone marrow to produce sufficient blood cells. Bone marrow failure can affect all blood cell lineages with clinical symptoms similar to aplastic anemia, or be restricted to a limited number of blood cell lineages e.g presenting with thrombocytopenia or neutropenia. Bone marrow failure may be accompanied by physical abnormalities like a short stature and skin pigmentation in Fanconi anemia, or dystrophic nails, lacy reticular pigmentation and oral leukoplakia in dyskeratosis congenita. Patients with inherited bone marrow failure syndrome have an increased risk of developing cancer—either hematological or solid tumors. Early diagnosis is important for management and surveillance of the diseases. Accurate genetic diagnosis is important to confirm the clinical diagnosis. The panel has been updated in 2018 and covers all known genes related to bone marrow failure including the common phenotypes Fanconi anemia, Diamond-Blackfan anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, WAS-related disorders.