Hemophagocytic lymphohistiocytosis (HLH) is a rare but severe syndrome of excessive immune activation. Type 2 HLH, specifically, is caused by mutations in the PRF1 gene, leading to the disorder’s familial or primary form. This genetic anomaly disrupts the normal function of immune cells, causing them to aggressively attack the body’s own tissues and organs. Recognizing the symptoms of this condition early can be crucial for effective management and treatment. DNA Labs UAE offers a comprehensive PRF1 Gene Hemophagocytic Lymphohistiocytosis Type 2 Genetic Test, priced at 4400 AED, to aid in the diagnosis of this condition.
Symptoms of PRF1 Gene Hemophagocytic Lymphohistiocytosis Type 2
The symptoms of PRF1 gene-related HLH can be severe and life-threatening, often requiring immediate medical attention. They include:
- Fever that persists and does not respond to standard treatments
- Splenomegaly (enlargement of the spleen)
- Hepatomegaly (enlargement of the liver)
- Cytopenias (a reduction in the number of blood cells, affecting red cells, white cells, and/or platelets)
- Hypertriglyceridemia (elevated levels of triglycerides in the blood)
- Hypofibrinogenemia (low levels of fibrinogen in the blood, affecting blood clotting)
- Hemophagocytosis (a condition where immune cells called histiocytes engulf other blood cells) identified in bone marrow, spleen, or lymph nodes
- Neurological symptoms such as seizures, ataxia, and irritability
Due to the complex nature of HLH and its overlapping symptoms with other conditions, genetic testing is often essential for a definitive diagnosis.
Understanding the PRF1 Gene Hemophagocytic Lymphohistiocytosis Type 2 Genetic Test
The PRF1 gene test offered by DNA Labs UAE is a targeted examination designed to detect mutations in the PRF1 gene that are associated with the development of HLH Type 2. This test is crucial for individuals with a family history of HLH or presenting symptoms suggestive of the syndrome. Early diagnosis through genetic testing can significantly improve the outcome by guiding appropriate and timely treatments.
Test Cost and Process
The cost of the PRF1 Gene Hemophagocytic Lymphohistiocytosis Type 2 Genetic Test at DNA Labs UAE is 4400 AED. The testing process involves collecting a blood sample from the patient, which is then analyzed in the laboratory for the presence of mutations in the PRF1 gene. Results from this test can provide valuable information for the diagnosis, management, and treatment planning of HLH Type 2, potentially guiding life-saving interventions.
Conclusion
HLH Type 2 is a severe genetic disorder that requires early detection for effective management. The symptoms can be distressing and life-threatening, emphasizing the importance of genetic testing for individuals at risk. DNA Labs UAE’s PRF1 Gene Hemophagocytic Lymphohistiocytosis Type 2 Genetic Test is a critical tool in diagnosing this condition, offering hope and direction for affected families. With a cost of 4400 AED, this test is a valuable investment in health, potentially saving lives through early detection and intervention.
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