Individual approach to cancer prevention.

Oncogenetics is a branch of genetics that studies the causes of tumorigenesis and function.

Genetic testing of cancer susceptibility genes determines the probable risk of cancer and also identifies specific pathological cancer susceptibility genes that provide information for prevention and early diagnosis.

 

JAK2

The JAK2 gene provides instructions for the creation of a protein that promotes cell growth and division (proliferation). This protein is part of a signaling pathway that transmits chemical signals from outside the cell to the cell nucleus. The JAK2 protein is particularly important in controlling the production of blood cells from hematopoietic stem cells. These stem cells are found in the bone marrow and can develop into red blood cells, white blood cells, and platelets.

#JAK-2 #JAK2_HUMAN #Janus kinase 2 (a protein tyrosine kinase) #JTK10 #tyrosine-protein kinase JAK2

JAK2 gene analysis (Val 617phe mutation)

Price 20 000 tenge

Diseases associated with JAK2 mutation

• Essential thrombocythemia/idiopathic thrombocythemia

Some gene mutations are acquired during life and are present only in certain cells. These changes, called somatic mutations, are not inherited. Somatic mutations in the JAK2 gene are associated with idiopathic thrombocythemia, a disorder characterized by an increased number of platelets, blood cells involved in blood clotting.

• Primary polycythemia

Somatic mutations in the JAK2 gene are also associated with primary polycythemia, characterized by uncontrolled blood cell production. The V617F mutation is identified in approximately 96% of people with polycythemia. About 3% of affected individuals have a somatic mutation in exon 12 of the JAK2 gene.

• Primary myelofibrosis

Somatic mutations of the JAK2 gene are also associated with primary myelofibrosis, a condition in which bone marrow is replaced by scar tissue (fibrosis).