JAK2 (Janus Kinase 2) V617F in Mumbai

The Janus Kinase 2 (JAK2) gene codes for the JAK2 protein. This protein has a crucial role in cell division and growth, especially for blood cells in the bone marrow. However, mutations in the JAK2 gene can lead to bone marrow disorders that may produce too many blood cells of different types in the body.

A JAK2 V617F test is essential to discover myeloproliferative neoplasms (MPNs). The body produces too many RBCs, platelets, and WBCs that might lead to different disorders like:

• Polycythemia vera – Too many red cells.
• Essential thrombocythemia – Too many platelets in the bone marrow. 
• Primary myelofibrosis - Too many platelet-producing cells or cells that produce scar tissue in the bone marrow.

The JAK2 mutation test is named the JAK2 V617F test because V617F is the specific mutation location on the JAK2 gene. This acquired point mutation replaces the amino acid Valine (V) with phenylalanine (F). As a result, the JAK2 protein remains consistently on and causes uncontrolled production of blood cells.

Apollo 24|7 offers a JAK2 mutation test panel that analyses the presence of this mutation in your genetic makeup. The JAK2 RT-PCR test reflects that JAK2 mutations are acquired and not inherited. Furthermore, the mutations are somatic that cannot be passed on to the progeny.

JAK2 mutation test uses the RT-PCR technique to find out the presence of the gene and check for gene expression. The polymerase chain reaction is a scientific procedure that amplifies a gene segment and looks for the presence of a targeted gene using probes.

As soon as the targeted genes appear during the amplification process, the cycle threshold (CT) value is noted. A low CT value indicates the higher intensity of the gene expression, while a higher CT value indicates lower intensity. The RT-PCR process involves a few significant steps such as:

• Collection of blood sample and extraction of mRNA from the sample
• Quantification of the mRNA
• cDNA synthesis for the mRNA
• Quantification of cDNA
• Using forward and reverse primers to start the process
• Checking for gene expression using a real-time polymerase chain reaction

JAK V617F test helps find bone marrow disorders. This is because nearly 100% of people with this mutation suffer from polycythemia vera, and almost 50% of the people have essential thrombocytosis primary myelofibrosis.

People experiencing the following symptoms can undergo the JAK2 mutation test:

• Enlargement in the spleen
• Night sweats with regular chills
• Sharp pain in the bones 
• Decreased platelet count
• Symptoms of anaemia
• Unexplained bruising in the body 
• Dizziness with headache
• Vision problems 
• Gout and kidney stones
• Sudden weight loss 
• Numbness and itchiness
• Shortness of breath 
• Stroke or heart attack 
• Blood clots in the vein or artery

While there is no cure for genetic mutations, taking the JAK2 mutation test at an early stage helps in managing the disorder and going for advanced therapies like stem cell transplantation.