Short Description

NGS genetic DNA test detecets for variant and mutation detection in TPI1 gene for Hemolytic anemia due to triosephosphate isomerase deficiency

PreTest Information

Clinical History of Patient who is going for TPI1 Gene Hemolytic anemia due to triosephosphate isomerase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TPI1 Gene Hemolytic anemia due to triosephosphate isomerase deficiency NGS Genetic DNA Test gene TPI1

Detail Description

TPI1 Gene Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Hemolytic anemia is a condition that is characterized by the destruction of red blood cells in the body. It can be caused by a variety of factors, including genetic mutations. One such mutation is a deficiency in the TPI1 gene, which codes for the enzyme triosephosphate isomerase. This deficiency can lead to a type of hemolytic anemia known as TPI deficiency.

Symptoms of TPI Deficiency

The symptoms of TPI deficiency can vary from person to person, but some common symptoms include:

• Anemia
• Fatigue
• Jaundice
• Enlarged spleen
• Increased risk of infections

These symptoms are caused by the destruction of red blood cells in the body. Without enough red blood cells to carry oxygen to the body's tissues, individuals with TPI deficiency may experience fatigue and other symptoms.

Diagnosis of TPI Deficiency

TPI deficiency can be diagnosed through a genetic test. This test looks for mutations in the TPI1 gene that are known to cause the deficiency. The test is typically performed using next-generation sequencing (NGS) technology, which allows for the rapid and accurate sequencing of DNA.

If a person is suspected of having TPI deficiency, their doctor may recommend a genetic test to confirm the diagnosis. The cost of the test is typically around INR 20000.

Treatment of TPI Deficiency

There is no cure for TPI deficiency, but the symptoms can be managed. Treatment typically involves blood transfusions to replace the red blood cells that are being destroyed. In severe cases, a bone marrow transplant may be necessary.

Conclusion

TPI deficiency is a rare genetic mutation that can lead to hemolytic anemia. Symptoms include anemia, fatigue, jaundice, and an enlarged spleen. The condition can be diagnosed through a genetic test that costs around INR 20000. While there is no cure for TPI deficiency, the symptoms can be managed through blood transfusions and other treatments.

If you or someone you know is experiencing symptoms of TPI deficiency, it is important to speak with a doctor. They can recommend the appropriate testing and treatment options to manage the condition.

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 TPI1 Gene Hemolytic anemia due to triosephosphate isomerase deficiency NGS Genetic DNA Test