Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRF1 gene for Aplastic anemia

PreTest Information

Clinical History of Patient who is going for PRF1 Gene Aplastic anemia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Aplastic anemia

Detail Description

PRF1 Gene Aplastic Anemia NGS Genetic DNA Test: Symptoms, Diagnosis and Cost in India

Aplastic anemia is a rare disorder that occurs when the body stops producing enough new blood cells. This can lead to fatigue, shortness of breath, and an increased risk of infections and bleeding. One of the genetic mutations associated with aplastic anemia is the PRF1 gene mutation. This mutation affects the production of perforin, a protein that is essential for the immune system to fight infections.

Symptoms of Aplastic Anemia

The symptoms of aplastic anemia can vary, but typically include:

• Fatigue
• Shortness of breath
• Dizziness
• Headache
• Irregular heartbeats
• Pale skin
• Increased risk of infections
• Uncontrolled bleeding

If you are experiencing any of these symptoms, it is important to consult a doctor as soon as possible.

Diagnosis of Aplastic Anemia

Aplastic anemia can be diagnosed through a series of tests, including:

• Complete blood count (CBC)
• Bone marrow biopsy
• Bone marrow aspiration
• Cytogenetic analysis
• Flow cytometry

If your doctor suspects that your aplastic anemia is genetic, they may recommend genetic testing to confirm the diagnosis.

PRF1 Gene Mutation and Aplastic Anemia

PRF1 gene mutation is one of the genetic mutations associated with aplastic anemia. This mutation affects the production of perforin, a protein that is essential for the immune system to fight infections. People with the PRF1 gene mutation have a higher risk of developing aplastic anemia and other immune-related disorders.

NGS Genetic DNA Test for PRF1 Gene Mutation

If you have a family history of aplastic anemia or have been diagnosed with the condition, your doctor may recommend genetic testing to determine if you have the PRF1 gene mutation. The NGS Genetic DNA Test is a comprehensive test that can detect mutations in the PRF1 gene and other genes associated with aplastic anemia.

Cost of NGS Genetic DNA Test for PRF1 Gene Mutation in India

The cost of the NGS Genetic DNA Test for PRF1 Gene Mutation in India can vary depending on the laboratory and location. At DNA Labs India, the cost of the test is INR 20,000. This test is covered by some insurance plans, so it is important to check with your insurance provider to see if it is covered.

Conclusion

If you or a loved one are experiencing symptoms of aplastic anemia or have been diagnosed with the condition, it is important to consult a doctor as soon as possible. If your doctor suspects that your aplastic anemia is genetic, they may recommend genetic testing to confirm the diagnosis. The NGS Genetic DNA Test for PRF1 Gene Mutation is a comprehensive test that can detect mutations in the PRF1 gene and other genes associated with aplastic anemia. At DNA Labs India, the cost of the test is INR 20,000.

Early diagnosis and treatment can help manage the symptoms of aplastic anemia and improve quality of life.

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 PRF1 Gene Aplastic anemia NGS Genetic DNA Test