JAK2 V617F Mutation Test, With Reflex To Jak2 Ex- 12, CALR Ex-9 Mutation And MPL W515, S505 Mutation
Also known as: JAK2 V617F Mutation Reflex Profile, EDTA Blood
JAK2 V617 Mutation Reflex Test Overview
The JAK2 V617 Mutation Reflex test is a specialised genetic test designed to detect the presence of the JAK2 V617F mutation and other related mutations in the JAK2 gene. This test plays crucial role in diagnosing and managing myeloproliferative neoplasms (MPNs), which include conditions like polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).
By identifying specific genetic mutations, the JAK2 V617F Mutation Reflex Test aids in establishing an accurate diagnosis and guiding appropriate treatment strategies.
The test begins with a highly sensitive DNA-based assay to detect JAK2 V617F mutation. In cases where the result is negative or shows a very low positive (0.06%-2%), the test reflexes to analyse other mutations in exons 12 to 15 of the JAK2 gene using advanced techniques such as Sanger sequencing or next-generation sequencing (NGS).
The JAK2 V617 Mutation test, with reflex to JAK2 Ex-12, CALR Ex-9 Mutation, and MPL W515, S505 Mutation, is a molecular diagnostic test used for the detection of specific mutations associated with myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). It serves as a molecular marker for MPNs and is particularly useful in suspected cases of PV, ET, or PMF. If the JAK2 V617F mutation is detected, additional mutation analysis for other genes is not necessary as it confirms the presence of an MPN. However, if the JAK2 V617F mutation is not detected, reflex testing for mutations in JAK2 Ex-12, CALR Ex-9, and MPL W515/S505 is performed to explore alternative genetic abnormalities associated with MPNs. This comprehensive molecular testing approach provides valuable information for the diagnosis and classification of MPNs, enabling healthcare professionals to guide appropriate treatment decisions and optimize patient care.
Reasons for Undergoing the JAK2 V617 Mutation Reflex Test
The JAK2 V617 Mutation Reflex test serves several important purposes:
- Diagnosing Myeloproliferative Neoplasms (MPNs): The test helps identify the genetic mutations associated with PV, ET, and PMF, aiding in accurate diagnosis.
- Supporting Clinical Diagnosis: A positive result for the JAK2 V617F mutation or other JAK2 mutations, when combined with clinical and laboratory findings, supports the diagnosis of MPNs.
- Ruling Out Other Conditions: A negative result can help rule out certain MPNs, although it does not completely exclude the possibility of other neoplasms.
List of Parameters Considered During the JAK2 V617 Mutation Reflex Test
The JAK2 V617 Mutation Reflex test measures the following key parameters:
- JAK2 V617F Mutation: This primary parameter indicates the presence of the c.1849 G>T mutation in exon 14 of the JAK2 gene, resulting in constitutive activation of the JAK2 protein and downstream signalling pathways.
- Other JAK2 Mutations: If the JAK2 V617F mutation is not detected or is present at very low levels, the test reflexes to analyse mutations in exons 12 to 15 of the JAK2 gene, which are less common but still significant in diagnosing certain MPNs.
These parameters provide valuable insights into:
- Presence of MPNs: A positive result is highly suggestive of a myeloid neoplasm.
- Specific Type of MPN: The type and burden of the mutation can help differentiate between PV, ET, and PMF.
- Disease Severity: The allele burden (percentage of mutant alleles) can correlate with the severity and clinical features of the disease.
JAK2 V617 Mutation Reflex Test Preparation
Preparing for the JAK2 V617 Mutation Reflex test involves the following steps:
- Sample Collection: Whole blood is collected in the original tube, inverted several times to mix properly, and labelled as blood.
- No Specific Dietary Restrictions: There are no specific dietary restrictions or fasting requirements for this test.
- Providing Clinical Information: Relevant clinical information and medical history should be provided to help interpret the test results accurately.
- Sample Handling: The sample should be sent to the laboratory without aliquoting, following the specific guidelines provided by the testing laboratory.
JAK2 V617 Mutation Reflex Test Results & Interpretation
The results of the JAK2 V617 Mutation Reflex test can be reported as follows:
- Positive for JAK2 V617F Mutation: Indicates the presence of the c.1849 G>T mutation, highly suggestive of a myeloid neoplasm such as PV, ET, or PMF.
- Positive for Other JAK2 Mutations: Indicates mutations in exons 12 to 15, which are less common but still significant in diagnosing certain MPNs.
- Negative for JAK2 Mutations: Makes a diagnosis of PV highly unlikely but does not exclude other MPNs or neoplasms.
Home Collection for JAK2 V617 Mutation Reflex Test Near You
Metropolis Healthcare offers the convenience of home sample collection for the JAK2 V617F Mutation Reflex Test. A trained phlebotomist will visit your doorstep to collect the blood sample, ensuring comfort and safety while maintaining high standards of sample handling and testing accuracy. With timely and reliable results, you can take proactive steps in managing your health.
Metropolis Healthcare is committed to making healthcare accessible by providing quality diagnostic solutions conveniently at home, emphasising their dedication to patient care and well-being.
JAK2 V617F Mutation Reflex Profile, EDTA Blood Price
Metropolis Healthcare is a leading diagnostics centre and pathology lab in India equipped with the latest state-of-the-art technologies that provides the JAK2 V617F Mutation Reflex Profile, EDTA Blood with a clear pricing structure.
The JAK2 V617F Mutation Reflex Profile, EDTA Blood Price in Mumbai is ₹ 13,200 .
We are committed to deliver accurate and quality results from the best labs in India with complete transparency regarding test cost and turnaround time. No matter where you are, we strive to offer patients high-quality service that is affordable and accessible.
Frequently Asked Questions
The JAK2 V617 Mutation Reflex Test detects the presence of a specific mutation in the JAK2 gene.
• To diagnose and confirm MPNs like PV, ET, and PMF • To monitor the progression and response to treatment of MPNs • To rule out other causes of high blood cell counts or abnormal blood cell production
This test is recommended for individuals who • have symptoms suggestive of MPNs like fatigue, enlarged spleen, or abnormal blood counts, • have a suspected diagnosis of PV, ET, or PMF, or • require monitoring of the disease progression or response to treatment.
Abnormal results of the JAK2 V617 Mutation Reflex Test may indicate the presence of the mutation associated with MPNs.
During the test, a technician will collect 3–5 ml of your blood using an EDTA tube. The blood sample will be sent to the laboratory for testing.
• Inform your doctor about any medications you are taking. Also, tell them if you have any specific requirements. • Provide your clinical diagnosis and test prescription and TRF (test request form) for accurate reporting.
• Jak2 Ex-12, MPL W515/S505, CALR Ex-9 Mutation Analysis: These tests confirm the presence of mutations in other genes associated with MPNs. • Complete Blood Count (CBC): This test provides information about red blood cells, white blood cells, and platelets.
JAK2 mutation test or the JAK2 exon 12 mutation test
Myeloproliferative neoplasms are a group of blood disorders characterised by the overproduction of certain blood cells. PV, ET, and PMF are specific types of MPNs. These conditions can affect the normal production and function of blood cells, leading to various symptoms and complications.
The JAK2 V617 Mutation Reflex test is a genetic test that detects the presence of the JAK2 V617F mutation and other related mutations in the JAK2 gene. It is crucial for diagnosing and managing myeloproliferative neoplasms (MPNs) such as polycythaemia vera, essential thrombocythaemia, and primary myelofibrosis.
Home sample collection is offered for the JAK2 V617 Mutation Reflex test. A professional phlebotomist will visit your home to collect the blood sample, ensuring that the sample is handled with the highest standards of care and accuracy.
Normal levels indicate the absence of the JAK2 V617F mutation or other mutations in the JAK2 gene. A negative result is reported when no mutations are detected above the laboratory's cutoff levels (typically <0.06% to 2% for very low positives).
The JAK2 V617 Mutation Reflex test is used to diagnose and manage myeloproliferative neoplasms (MPNs) such as polycythaemia vera (PV), essential thrombocythaemia (ET), and primary myelofibrosis (PMF). It helps identify the genetic mutations associated with these conditions.
The frequency of testing depends on the clinical indication and your medical history. It is typically performed when there is a suspicion of MPN based on clinical and laboratory findings, and may be repeated as part of monitoring and follow-up.
There is no specific time requirement for this test, but it is generally performed during outpatient visits or as part of a diagnostic workup. Your doctor will advise you on the appropriate timing based on your individual circumstances.
No, fasting is not required for the JAK2 V617 Mutation Reflex test. You can proceed with the test without any specific dietary restrictions or fasting requirements.
No special precautions are needed before taking the JAK2 V617 Mutation Reflex test. However, it is important to share your relevant clinical information and medical history with your doctor to ensure accurate interpretation of the test results.
The JAK2 V617 Mutation Reflex test measures the presence of JAK2 V617F mutation and other JAK2 mutations in exons 12 to 15. These parameters indicate the presence of MPNs, the specific type of MPN, and disease severity.
The JAK2 V617 Mutation Reflex test should be done when there is a clinical suspicion of myeloproliferative neoplasms (MPNs) based on symptoms, physical examination, and other laboratory findings. Your doctor will determine if this test is appropriate for your situation.
The time required for the JAK2 V617 Mutation Reflex test may vary depending on the laboratory and the specific testing methods used. Typically, the results are available within a few days to a week after the sample is received by the laboratory.
The turnaround time for the JAK2 V617 Mutation Reflex test results is usually within 10 days, based on the day/time when the sample was collected and processed. However, you can consult with your healthcare provider or the specific lab for more precise timelines.
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