Hemophagocytic lymphohistiocytosis (HLH) is a rare but severe syndrome of excessive immune activation. It can be inherited or acquired, with the genetic form often presenting in infancy or early childhood. Among the genetic causes, mutations in the UNC13D gene lead to a form of the disease known as familial hemophagocytic lymphohistiocytosis type 3 (FHL3). Understanding the symptoms and the availability of genetic testing for this condition is crucial for early diagnosis and treatment, potentially saving lives. DNA Labs UAE offers a comprehensive genetic test for the UNC13D gene mutation, providing a vital resource for affected families.
Symptoms of UNC13D Gene Hemophagocytic Lymphohistiocytosis Type 3
The symptoms of FHL3 caused by mutations in the UNC13D gene can be severe and life-threatening, often necessitating prompt medical attention. These symptoms are a result of the immune system’s overactivation, leading to widespread inflammation and damage to organs and tissues. Key symptoms include:
- Fever that persists for no apparent reason
- Splenomegaly (enlargement of the spleen)
- Hepatomegaly (enlargement of the liver)
- Anemia (a reduction in the number of red blood cells)
- Thrombocytopenia (a low platelet count)
- Neutropenia (a decrease in the number of white blood cells, specifically neutrophils)
- Hypertriglyceridemia (elevated levels of triglycerides in the blood)
- Hypofibrinogenemia (reduced levels of fibrinogen in the blood, affecting blood clotting)
- Neurological symptoms, including irritability, seizures, and ataxia (lack of muscle control)
It’s important to note that these symptoms are not exclusive to FHL3 and can be indicative of other conditions. Therefore, genetic testing is essential to confirm the diagnosis.
UNC13D Gene Hemophagocytic Lymphohistiocytosis Type 3 Genetic Test
DNA Labs UAE offers a genetic test specifically designed to detect mutations in the UNC13D gene, which are responsible for FHL3. This test is a crucial step in the diagnosis process, providing definitive evidence of the condition. Early diagnosis and treatment are vital to improving outcomes for affected individuals. The genetic test involves a simple blood draw, and the sample is then analyzed using advanced genetic sequencing techniques to identify any mutations in the UNC13D gene.
Test Cost
The cost of the UNC13D gene hemophagocytic lymphohistiocytosis type 3 genetic test at DNA Labs UAE is 4400 AED. While the cost may seem significant, it’s important to consider the potential life-saving benefits of an early and accurate diagnosis. Early intervention can prevent severe complications and improve the quality of life for those affected by FHL3.
Conclusion
Hemophagocytic lymphohistiocytosis type 3, caused by mutations in the UNC13D gene, is a severe condition that requires prompt diagnosis and treatment. DNA Labs UAE provides a vital service with their genetic test for FHL3, offering hope and support to families affected by this condition. By recognizing the symptoms and understanding the importance of genetic testing, families can take proactive steps towards diagnosis and treatment, significantly impacting the affected individual’s outcome.
For more information on the UNC13D gene hemophagocytic lymphohistiocytosis type 3 genetic test, please visit DNA Labs UAE.
