AdGeniX offers references which laboratory to confidently diagnose genetic conditions and from hereditary genetic conditions. Products are CE-IVD marked unless stated different. Contact us for more information about our range of products
Cystic Fibrosis (CFTR)
The assay is an in vitro PCR reaction assay for the Qualitative determination of Cystic Fibrosis (CFTR) in the human sample such as Human Whole Blood and is based on the Taqman detection method for Cystic Fibrosis (CFTR) with high sensitive one step qPCR kit.
The Cystic Fibrosis (CFTR) PCR kit is very sensitive and up to 100% specific for the 8 most common Cystic Fibrosis (CFTR) mutations under our validation methods and devices.
The Factor II Prothrombin “20210 Mutation” is a genetic condition that increases the likelihood of dangerous blood clots forming. All individuals make the Factor II prothrombin protein that helps blood clot. However, there are certain individuals who have a DNA mutation in the gene used to make prothrombin (also called prothrombin G20210A or the factor II mutation).
The assay is an in vitro PCR reaction assay for the Qualitative determination of Factor II Prothrombin 20210 Mutation DNA in the human sample such as Whole Blood and K2EDTA plasma based on Taqman detection method for Factor II Prothrombin (20210 mutation) with high sensitive one step qPCR kit. These individuals have a thrombophilia (clotting disorder) called prothrombin G20210A which causes them to make too much of the prothrombin protein.
Factor V (Leiden)
Factor V Leiden (FVL), an inherited thrombophilia, is the most common genetic risk factor for venous thrombosis. The FVL mutation is a G>A single nucleotide polymorphism (SNP) in the Factor V gene resulting in an arginine to glutamine (R506Q) amino acid change. This causes the protein to resist degradation, which disrupts the natural anticoagulant system.
This kit is an in vitro real-time PCR test for the qualitative detection of the Factor V Leiden G1691A mutation in human whole blood samples. It is based on allele specific PCR with hydrolysis probe detection and is a highly sensitive qPCR kit.
Factor V R2 Polymorphism
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 heterozygous for the factor V Leiden mutation. Combination of the R2 Polymorphism with factor V Leiden increases the risk of venous thrombosis by 16 times.
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 haemostatic plug is overwhelmed. Bleeding tendencies similar to haemophiliacs develop, such as hemarthroses and deep tissue bleeding.
Familial Mediterranean Fever FMF
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 lining, lining surrounding the lungs and the joints; characteristic ankle rash and fever.
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.
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 the eye, and arthritis. Less common symptoms are inflammation of the brain or spinal cord, blood clots, aneurysms, or blindness.
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 myelofibrosis.
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.
Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation has been associated with elevated plasma homocysteine concentration. This is a major risk factor for venous thrombosis and renal vein thrombosis (RVT), the formation of a clot in the vein that transports blood from the kidneys, leading to a decrease in the drainage of one or both kidneys and the migration of the clot to other parts of the body.