STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 Genetic Test
Welcome to DNA Labs UAE, a leading genetic lab offering the STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 Genetic Test. This test is designed to diagnose individuals with hemophagocytic lymphohistiocytosis type 5 (HLH5), a rare genetic disorder associated with the STXBP2 gene.
Test Details
The STXBP2 gene is responsible for producing a protein called syntaxin-binding protein 2, which plays a crucial role in the regulation of the immune system. Mutations in the STXBP2 gene can lead to an overactive immune system, causing HLH5. HLH5 is a severe and potentially life-threatening condition characterized by the excessive activation of immune cells.
Our STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 Genetic Test utilizes next-generation sequencing (NGS) technology to analyze the STXBP2 gene for mutations or variants associated with HLH5. NGS allows for the simultaneous analysis of multiple genes or the entire genome, providing accurate and comprehensive results.
Test Components and Price
The STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 Genetic Test is priced at 4400.0 AED. The test requires a blood sample or extracted DNA, or just one drop of blood on an FTA card.
Report Delivery and Method
The test results will be delivered within 3 to 4 weeks. Our laboratory utilizes NGS technology for the analysis of the STXBP2 gene.
Test Type and Doctor
The STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 Genetic Test falls under the category of Osteology Dermatology Immunology Disorders. It is recommended to consult with a dermatologist for this specific test.
Test Department and Pre Test Information
The test is conducted in our Genetics department. Prior to the test, it is essential to provide the clinical history of the patient who is going for the STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 NGS Genetic DNA Test. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by HLH5.
Importance and Applications
NGS genetic testing for HLH5 can provide crucial information for genetic counseling, family planning, and treatment decisions. By identifying mutations in the STXBP2 gene, this test helps in diagnosing individuals with HLH5 and provides insights into the specific genetic variant causing the condition. It is important to note that this test should be performed in specialized genetic testing laboratories and requires a healthcare professional’s order. The results should be interpreted by a geneticist or genetic counselor who can provide appropriate counseling and guidance based on the individual’s specific situation.
At DNA Labs UAE, we are dedicated to providing accurate and reliable genetic testing services. Our STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 Genetic Test offers valuable insights into this rare genetic disorder. Contact us today to learn more about this test and schedule an appointment.
Test Name | STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Osteology Dermatology Immunology Disorders |
Doctor | Dermatologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 NGS Genetic DNA Test gene STXBP2 |
Test Details |
The STXBP2 gene is associated with a rare genetic disorder called hemophagocytic lymphohistiocytosis type 5 (HLH5). HLH5 is a type of hemophagocytic lymphohistiocytosis (HLH), which is a severe and potentially life-threatening condition characterized by an overactive immune system. HLH5 is caused by mutations in the STXBP2 gene, which provides instructions for making a protein called syntaxin-binding protein 2. This protein is involved in the regulation of the immune system, specifically in the release of cytotoxic granules from immune cells called natural killer cells and cytotoxic T cells. A next-generation sequencing (NGS) genetic test can be used to analyze the STXBP2 gene for mutations or variants that may be associated with HLH5. NGS is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes or the entire genome. By identifying mutations in the STXBP2 gene, NGS genetic testing can help diagnose individuals with HLH5 and provide information about the specific genetic variant causing the condition. This information can be useful for genetic counseling, family planning, and potentially for guiding treatment decisions. It’s important to note that NGS genetic testing for HLH5 is typically performed in specialized genetic testing laboratories and requires a healthcare professional’s order. The results of the test should be interpreted by a geneticist or genetic counselor who can provide appropriate counseling and guidance based on the individual’s specific situation. |