Chronic Neutrophilic Leukemia (CNL) is a rare myeloproliferative disorder characterized by an increase in predominantly mature neutrophils in the blood. The diagnosis and understanding of CNL have evolved significantly with the advent of genetic testing, specifically targeting mutations in the CSF3R gene (exons 14 and 17) and the SETBP1 gene (exon 4). These genetic markers have not only refined diagnostic criteria but also opened new avenues for targeted therapy.
Symptoms of Chronic Neutrophilic Leukemia
Individuals with CNL may present with a range of symptoms, which are often non-specific and can mimic other conditions. Key symptoms include:
- Enlargement of the spleen (splenomegaly): This is one of the most common signs, causing discomfort or pain on the left side of the abdomen.
- Fatigue: A general feeling of tiredness or weakness that is not relieved by rest, often due to anemia.
- Fever: Unexplained fevers may occur as a result of the disease.
- Weight loss: Unintentional weight loss without trying.
- Gout: The rapid turnover of cells can lead to an increase in uric acid, causing joint pain or gout.
- Bone pain: Some patients may experience pain in their bones.
Importance of Genetic Testing in CNL
Genetic testing plays a pivotal role in the diagnosis of CNL. Mutations in the CSF3R gene, particularly in exons 14 and 17, are considered hallmark features of the disease. These mutations can activate the CSF3R signaling pathway abnormally, leading to the uncontrolled production of neutrophils. Additionally, mutations in the SETBP1 gene (exon 4) have been identified in a subset of CNL patients, which can further drive the proliferation of neutrophils. Identifying these mutations not only confirms the diagnosis but also helps in stratifying patients for targeted therapies.
CSF3R Gene – Exon 14 and 17; SETBP1 Gene – Exon 4 Test
The CSF3R and SETBP1 gene test is a specialized genetic test offered by DNA Labs UAE, designed to detect mutations in specific exons of the CSF3R and SETBP1 genes. This test is critical for the accurate diagnosis of CNL and is performed using advanced genomic technologies to ensure high sensitivity and specificity. The test requires a blood sample from the patient, and the results are typically available within a few weeks.
Test Cost
The cost of the CSF3R Gene – Exon 14 and 17; SETBP1 Gene – Exon 4 Test at DNA Labs UAE is 2400 AED. This cost is reflective of the sophisticated technology and expertise required to accurately identify the genetic mutations associated with CNL.
Conclusion
Chronic Neutrophilic Leukemia is a complex disease that requires a comprehensive approach to diagnosis and management. The identification of specific genetic mutations has revolutionized the understanding and treatment of CNL. DNA Labs UAE is at the forefront of providing advanced genetic testing services, including the CSF3R and SETBP1 gene test, to aid in the accurate diagnosis and targeted treatment of CNL patients. For more information or to schedule a test, please visit our website.
