The genMAP™ Thrombophilia assay offers a very simple procedure for testing the most relevant mutations implicated in the risk of an abnormality of blood coagulation, leading to increased risk for thrombosis.
Familial Mediterranean Fever (FMF) is an autosomal recessive, inflammatory disorder characterized by short, recurrent attacks of fever, accompanied by pain in the abdomen, chest or joints, and erysipelas-like erythema.
HLA-B molecules are cell surface proteins that play an important role in immunity. The frequency of the HLA-B27 variant is about 8% in the general Caucasian population, whereas it is found in over 90% of patients suffering from ankylosing spondylitis (AS).
It was diagnosed in 1937 by Hulusi Behçet, a Turkish doctor, and is therefore referred to as Behçet’s Disease or Behçet’s Syndrome in the international literature.
Celiac disease is a common, familial, autoimmune gastrointestinal disease. It is caused by sensitivity to the dietary protein gluten, which is present in wheat, rye, and barley.
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei.