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

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Detail Description

JAK 2 EXON 12 MUTATION DETECTION Test: Symptoms, Diagnosis, and Cost in India

Do you suspect that you or a loved one may have a JAK 2 Exon 12 mutation? DNA Labs India offers a JAK 2 Exon 12 Mutation Detection test that can help diagnose this condition. In this blog, we will discuss the symptoms, diagnosis, and cost of the JAK 2 Exon 12 Mutation Detection test in India.

Symptoms of JAK 2 Exon 12 Mutation

JAK 2 Exon 12 Mutation is a rare genetic disorder that affects the blood and bone marrow. People with this condition may experience symptoms such as:

• Fatigue
• Shortness of breath
• Dizziness
• Headaches
• Easy bruising or bleeding
• Enlarged spleen
• Joint pain

It's important to note that these symptoms can also be caused by other conditions, so it's important to consult with a healthcare professional for an accurate diagnosis.

Diagnosis of JAK 2 Exon 12 Mutation

A healthcare professional may suspect JAK 2 Exon 12 Mutation based on symptoms and medical history. A JAK 2 Exon 12 Mutation Detection test can confirm the diagnosis.

The JAK 2 Exon 12 Mutation Detection test is a blood test that looks for mutations in the JAK 2 gene. This gene provides instructions for making a protein that helps regulate the production of blood cells. Mutations in this gene can lead to overproduction of blood cells, which can cause the symptoms of JAK 2 Exon 12 Mutation.

Cost of JAK 2 Exon 12 Mutation Detection Test in India

The cost of the JAK 2 Exon 12 Mutation Detection test at DNA Labs India is INR 7500. This includes the cost of the test and the consultation with a healthcare professional to discuss the results.

If you suspect that you or a loved one may have JAK 2 Exon 12 Mutation, it's important to consult with a healthcare professional for an accurate diagnosis. The JAK 2 Exon 12 Mutation Detection test at DNA Labs India can provide valuable information for diagnosis and treatment.

Conclusion

JAK 2 Exon 12 Mutation is a rare genetic disorder that can cause a range of symptoms. The JAK 2 Exon 12 Mutation Detection test at DNA Labs India can help diagnose this condition and provide valuable information for treatment. If you suspect that you or a loved one may have JAK 2 Exon 12 Mutation, consult with a healthcare professional for an accurate diagnosis.

For more information on the JAK 2 Exon 12 Mutation Detection test or to schedule a consultation, contact DNA Labs India today.