JAK2 Mutation (Molecular Genetics) Test Cost & Procedure

The protein Janus phosphatase 2 is one of the most frequently altered molecules reported in myeloproliferative neoplasms (MPNs) (JAK2). This significant finding has altered how medical professionals now identify and treat MPN patients. Both the JAK gene and the JAK protein will be covered.

Blood malignancies called MPNs are brought on by the bone marrow's excessive synthesis of blood cells. The three primary categories of MPNs are most frequently associated with mutations in the gene regulating JAK2 protein production:

• Overproduction of red blood cells is known as polycythemia vera (PV).
• Essential thrombocythemia (ET): excessive platelet production

Myelofibrosis (MF) primary: scar tissue accumulation in the bone marrow that prevents the formation of new blood cells

The JAK2 gene's V617F mutation is present in:

• 96% of instances of polycythemia vera
• 50 to 60 percent of instances of primary myelofibrosis
• 50 to 60 percent of instances of essential thrombocythemia
• More than 50 distinct JAK2 mutations have also been discovered in additional JAK2 gene regions, mostly in PV patients.

What Does the Gene JAK2 Do?

The formation of blood cells from stem cells located in the bone marrow is tightly regulated by the JAK2 protein.

Genetic coding for the JAK2 protein is carried out by the JAK2 gene. The JAK/STAT pathway, which conveys signals to encourage cell development, is made up of this protein.

When the JAK2 protein is activated, it sends a message to the STAT protein, which then engages in a process known as dimerization to attach to another STAT molecule. After entering the cell's nucleus, this collection of chemicals activates genes that instruct the cell to divide and grow.

Why Do JAK2 Mutations Occur?

JAK2 mutations in MPNs often fall into one of two categories.

Mutation V617F

One base in the genetic code is altered, resulting in the V617F mutation. Following this straightforward modification, the amino acid valine (V) is changed to phenylalanine (F) at position 617 in the JAK2 protein, altering the protein's structure. This mutation causes JAK2 signalling to be activated and unable to be shut off, which results in unchecked cell proliferation. In the case of MPNs, this results in an excessive blood cell production, which produces blood malignancies.

Several variations

The JAK2 gene contains numerous sorts of mutations in various places. Nearly all of the more than 50 distinct mutations that have been found in the gene are present in PV patients.

The JAK2 gene has a particular region that is prone to mutation. A linker that joins two pieces of the JAK2 protein is genetically coded for in this region. Here, deletions and insertions are frequent alterations. When complete sections of the protein are gone, it is called a deletion. Incorrect fragments are inserted into the protein during insertions. The JAK2 protein's structure can be altered by insertions and deletions, which may have an impact on how it functions.

Do MPNs Relate to JAK2 Mutations?

A mutation in one bone marrow-located stem cell is the root cause of MPNs. The cell rapidly divides as a result of these alterations, producing an excess of the same type of cell. Numerous MPN cases involve JAK2 gene alterations. In addition to JAK2 genes, CALR and MPL gene alterations are frequently implicated in the emergence of MPNs. Typically, these three mutations are mutually exclusive, so if one is present, the others are not.

MPN Diagnosis and Prognosis in JAK2 Mutations

To diagnose MPNs, a variety of tests are necessary, each of which offers a unique piece of information. The physical examination and health history are the doctor's first steps. A complete blood count (CBC) with a differential, which counts the quantity of red blood cells, platelets, and white blood cells, is another test they may request.