Familial Mediterranean fever (FMF) Overview: Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder, which is caused by mutations in Mediterranean fever gene, which encodes a 781–amino acid protein, pyrin. When the MEFV gene is mutated and pyrin is not formed correctly or working properly, inflammation is not regulated, resulting in painful inflammation of the abdominal ... Read More
JAK2 (JAK2 V617F) Overview: Janus kinase 2 (JAK2) is a non-receptor tyrosine kinase. The V617F mutation in the JAK2 gene involves a valine to phenylalanine amino acid change at the 617 position, rendering hematopoietic cells more sensitive to growth factors such as erythropoietin and thrombopoietin. JAK 2 mutations are associated with myeloproliferative disorders such as polycythaemia vera, essential thrombocythaemia, and idiopathic ... Read More
HLA B51 Overview: HLA-B51 (B51) is an HLA-B serotype and a split antigen of the broad antigen B5, and is a sister serotype of B52. B51 is associated with several diseases, including Behçet’s disease, which is a type of inflammatory disorder which affects multiple parts of the body. The most common symptoms include painful mouth sores, genital sores, inflammation of parts of ... Read More
HLA B27 Overview: Human leukocyte antigen (HLA) B27 is a class I surface antigen encoded by the B locus in the major histocompatibility complex (MHC) on chromosome 6 which presents antigenic peptides (derived from self and non-self-antigens) to T cells. HLA-B27 is strongly associated with Ankylosing Spondylitis (AS), Pondyloarthropathies (SpA), inflammatory bowel disease, and reactive arthritis. Product details: This assay is ... Read More
Cystic Fibrosis (CFTR) Overview: More than 1,000 mutations in the CFTR gene have been associated with cystic fibrosis. Most of these mutations in the CFTR gene change the production, structure, or stability of the chloride channel. All of these charevent the channel from functioning properly, which impairs the transport of chloride ions and the ... Read More
Factor V R2 Polymorphism Overview: Polymorphism in factor V gene R2 can be a potential risk factor for the development of venous thromboembolism (VTE). The factor V R2 polymorphism is associated with decreased levels of factor V and it drastically increases the risk of venous thrombosis in individuals who are ... Read More
Plasminogen activator inhibitor-1 (PAI-1) Overview: Plasminogen activator inhibitor type 1 (PAI-1), also known as endothelial plasminogen activator inhibitor or serpine E1 is a protein encoded by the SERPINE1 gene. Elevated PAI-1 is a risk factor for thrombosis and atherosclerosis. Product details: The kit contains an in vitro PCR assay for the qualitative determination plasminogen activator inhibitor type 1 (PAI-1) in ... Read More
AMD Human Spinal Muscular Atrophy (SMA) Overview. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by loss of motor neurons in the anterior horn of the spinal cord and subsequent system-wide atrophy of skeletal muscles and progressive muscle wasting, often leading to early death. The disorder is caused by a genetic defect in the SMN1 gene, which encodes SMN, a protein widely ... Read More
Factor XIII Overview: Factor XIII or fibrin stabilizing factor is an enzyme of the blood coagulation system that crosslinks fibrin. Deficiency of this factor (FXIIID) affects clot stability. Deficiency of Factor XIII leads to defective cross-linking of fibrin and vulnerability to late re-bleeds when the primary hemostatic plug is overwhelmed. Bleeding tendencies similar to hemophiliacs develop, such as hemarthroses and deep tissue bleeding. ... Read More
Methylenetetrahydrofolate reductase MTHFR 1298 Overview: MTHFR is an enzyme that converts 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a substrate for homocysteine remethylation to methionine. When the activity of Methylenetetrahydrofolate reductase MTHFR A1298C is reduced/low, methionine synthesis metabolism is inhibited, increasing concentration of homocysteine, resulting in hyperhomocysteinemia, which can cause venous thromboembolism. Product ... Read More
