Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRF1 gene for Hemophagocytic lymphohistiocytosis type 2

PreTest Information

Clinical History of Patient who is going for PRF1 Gene Hemophagocytic lymphohistiocytosis type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PRF1 Gene Hemophagocytic lymphohistiocytosis type 2 NGS Genetic DNA Test gene PRF1

Detail Description

PRF1 Gene Hemophagocytic Lymphohistiocytosis Type 2 NGS Genetic DNA Test

Hemophagocytic Lymphohistiocytosis (HLH) is a rare and life-threatening immune system disorder that can affect both adults and children. It is caused by an abnormal immune response that leads to the overproduction of immune cells, resulting in the damage of various organs. HLH can be classified into different types based on the underlying genetic mutations. One of the types is HLH Type 2, which is caused by mutations in the PRF1 gene.

What is the PRF1 Gene?

The PRF1 gene provides instructions for making a protein called perforin, which is essential for the function of certain immune cells called cytotoxic T lymphocytes and natural killer cells. These cells play a crucial role in the immune response by identifying and killing infected or abnormal cells, such as cancer cells.

What is HLH Type 2?

HLH Type 2 is a rare form of HLH that is caused by mutations in the PRF1 gene. These mutations result in a reduced or absent production of perforin, which impairs the function of cytotoxic T lymphocytes and natural killer cells. As a result, the immune system is unable to properly eliminate infected or abnormal cells, leading to the overproduction of immune cells and the damage of various organs.

Symptoms of HLH Type 2

The symptoms of HLH Type 2 can vary depending on the age of onset and the severity of the disease. Some common symptoms include:

• Fever
• Enlarged liver and spleen
• Jaundice
• Anemia
• Low platelet count
• Abnormal blood clotting
• Neurological symptoms

Diagnosis of HLH Type 2

HLH Type 2 is typically diagnosed through a combination of clinical evaluation, blood tests, and genetic testing. Blood tests can reveal abnormalities in the immune system and organ function, while genetic testing can identify mutations in the PRF1 gene. Other tests, such as bone marrow biopsy and imaging studies, may also be done to assess the extent of organ damage.

NGS Genetic DNA Test for HLH Type 2

The NGS Genetic DNA Test is a cutting-edge genetic test that uses next-generation sequencing technology to identify mutations in the PRF1 gene. This test provides a comprehensive analysis of the gene, allowing for the detection of even rare mutations. The test is highly accurate and can help in the early diagnosis of HLH Type 2, enabling prompt treatment and management of the disease.

Cost of NGS Genetic DNA Test for HLH Type 2

The cost of the NGS Genetic DNA Test for HLH Type 2 at DNA Labs India is INR 20,000. The test is performed by highly trained and experienced geneticists using state-of-the-art equipment and technology. The test report is provided within a few weeks and includes detailed information on any identified mutations.

Conclusion

HLH Type 2 is a rare and life-threatening immune system disorder that is caused by mutations in the PRF1 gene. Early diagnosis and treatment are crucial for the management of the disease. The NGS Genetic DNA Test offered by DNA Labs India is a highly accurate and comprehensive test that can identify mutations in the PRF1 gene, enabling prompt diagnosis and management of HLH Type 2.

For more information on the NGS Genetic DNA Test for HLH Type 2, please contact DNA Labs India.