Short Description

JAK2 gene mutations are important diagnostic markers for the Myeloproliferative disorder Polycythemia vera (PV). A single mutation (V617F) is found in approximately 95% of cases. Of the PV cases that are V617F-negative (approximately 5%), most are associated with mutations in a different region of the JAK2 gene within exon 12. Patients with exon 12 mutations present frequently with erythrocytosis as the predominant feature, but without concurrent elevations in the megakaryocytic or granulocytic lineages as seen in V617F-positive PV. Consequently, many exon 12 positive cases are considered clinically as Idiopathic erythrocytosis. Unlike the V617F mutation that is found in several Myeloproliferative neoplasms (PV, Essential thrombocythemia & Primary myelofibrosis), JAK2 exon 12 mutations are restricted only to cases of PV. WHO (2016) diagnostic algorithm for suspected PV now recommends JAK2 exon 12 mutation screening in patients who present with a suspicion for PV that is V617F negative.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

JAK 2 V617F REFLEX TO JAK 2 EXON 12 MUTATION DETECTION Test

Are you experiencing symptoms such as fatigue, headaches, or unexplained weight loss? These could be signs of a blood disorder. One such disorder is polycythemia vera, a condition in which the body produces too many red blood cells. The JAK 2 V617F REFLEX TO JAK 2 EXON 12 MUTATION DETECTION test can help diagnose this disorder.

Symptoms of Polycythemia Vera

Polycythemia vera is a rare blood disorder that affects the bone marrow's ability to produce blood cells. Symptoms of this disorder include:

• Fatigue
• Headaches
• Dizziness
• Shortness of breath
• Itching, especially after a warm bath or shower
• Numbness, tingling, or burning sensations in the hands or feet
• Unexplained weight loss
• Enlarged spleen

If you are experiencing any of these symptoms, it is important to see a doctor. Polycythemia vera can lead to serious complications, such as blood clots, stroke, or heart attack.

Diagnosing Polycythemia Vera

To diagnose polycythemia vera, doctors will perform a series of tests, including a complete blood count (CBC) and a JAK 2 V617F mutation test. The JAK 2 V617F mutation is found in more than 95% of patients with polycythemia vera.

If the JAK 2 V617F mutation test is negative, but the doctor still suspects polycythemia vera, they may order a JAK 2 exon 12 mutation test. This test is used to detect mutations in the JAK 2 gene that are not detected by the V617F mutation test. The JAK 2 exon 12 mutation is found in about 5% of patients with polycythemia vera.

JAK 2 V617F REFLEX TO JAK 2 EXON 12 MUTATION DETECTION Test Cost

The cost of the JAK 2 V617F REFLEX TO JAK 2 EXON 12 MUTATION DETECTION test in India is INR 10,500. This test is not covered by most insurance plans and is typically paid for out of pocket.

Conclusion

If you are experiencing symptoms of polycythemia vera, it is important to see a doctor and get tested. The JAK 2 V617F REFLEX TO JAK 2 EXON 12 MUTATION DETECTION test can help diagnose this rare blood disorder and ensure that you receive the appropriate treatment. Don't ignore your symptoms – early detection can save lives.

For more information on the JAK 2 V617F REFLEX TO JAK 2 EXON 12 MUTATION DETECTION test, contact DNA Labs India.