Short Description

NGS genetic DNA test detecets for variant and mutation detection in STXBP2 gene for Hemophagocytic lymphohistiocytosis type 5

PreTest 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

Detail Description

STXBP2 Gene Hemophagocytic Lymphohistiocytosis Type 5 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India offers a comprehensive genetic test for Hemophagocytic lymphohistiocytosis type 5 (HLH-5) that analyzes the STXBP2 gene. This test helps in identifying the genetic cause of HLH-5, which is a rare and life-threatening disorder that affects the immune system. The cost of this NGS genetic DNA test is INR 20000.

What is Hemophagocytic Lymphohistiocytosis Type 5 (HLH-5)?

HLH-5 is a rare genetic disorder that affects the immune system. It is characterized by the overactivation of immune cells, which leads to inflammation and tissue damage. The symptoms of HLH-5 can appear at any age, but they usually develop in early childhood. The symptoms of HLH-5 include:

• Fever
• Enlarged liver and spleen
• Low blood counts
• Jaundice
• Neurological symptoms, such as seizures or abnormal movements
• Respiratory distress
• Abdominal pain

What is the STXBP2 Gene?

The STXBP2 gene provides instructions for making a protein called Munc18-2. This protein is involved in the release of granules from immune cells called cytotoxic T cells and natural killer cells. These granules contain substances that help in the destruction of infected or abnormal cells in the body. Mutations in the STXBP2 gene can lead to the production of a defective Munc18-2 protein, which can cause HLH-5.

How is HLH-5 Diagnosed?

HLH-5 is diagnosed through a combination of clinical symptoms, laboratory tests, and genetic testing. The symptoms of HLH-5 can mimic other diseases, so it is important to perform laboratory tests to confirm the diagnosis. These tests include:

• Blood tests to check for low blood counts, liver and kidney function, and inflammation
• Bone marrow biopsy to examine the cells in the bone marrow
• Liver biopsy to examine the cells in the liver
• Genetic testing to identify mutations in genes associated with HLH-5, such as the STXBP2 gene

What is the NGS Genetic DNA Test for HLH-5?

The NGS Genetic DNA Test for HLH-5 analyzes the STXBP2 gene to identify mutations that can cause HLH-5. This test uses next-generation sequencing (NGS) technology, which allows for the simultaneous analysis of multiple genes. The test is performed on a blood or saliva sample and takes approximately 4-6 weeks to obtain results.

What is the Cost of the NGS Genetic DNA Test for HLH-5?

The cost of the NGS Genetic DNA Test for HLH-5 is INR 20000. This cost includes the test kit, sample collection, laboratory analysis, and a detailed report of the results.

Conclusion

The NGS Genetic DNA Test for HLH-5 offered by DNA Labs India can help in the diagnosis of this rare and life-threatening disorder. The test analyzes the STXBP2 gene to identify mutations that can cause HLH-5. The cost of the test is INR 20000, and it takes approximately 4-6 weeks to obtain results. If you or a loved one is experiencing symptoms of HLH-5, it is important to consult with a healthcare provider to determine if genetic testing is necessary.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 NGS Genetic DNA Test