Short Description

NGS genetic DNA test detecets for variant and mutation detection in CFHR2 gene for Hemolytic uremic syndrome

PreTest Information

Clinical History of Patient who is going for CFHR2 Gene Hemolytic uremic syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CFHR2 Gene Hemolytic uremic syndrome NGS Genetic DNA Test gene CFHR2

Detail Description

CFHR2 Gene Hemolytic Uremic Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Hemolytic Uremic Syndrome (HUS) is a rare but serious condition that affects the kidneys and blood. It is characterized by the destruction of red blood cells, low platelet count, and damage to the lining of blood vessels. HUS can occur in both children and adults, but it is more common in children. One of the genes that have been linked to HUS is the CFHR2 gene. In this blog, we will discuss the CFHR2 gene, Hemolytic Uremic Syndrome, its symptoms, diagnosis, and the cost of NGS Genetic DNA Test in India.

The CFHR2 Gene

The CFHR2 gene is located on chromosome 1 and codes for a protein that is involved in the regulation of the complement system. The complement system is a part of the immune system that helps to destroy foreign substances such as bacteria and viruses. When the complement system is activated, it leads to the destruction of the foreign substance. However, in some cases, the complement system can be overactivated and lead to the destruction of healthy cells as well. This overactivation has been linked to Hemolytic Uremic Syndrome.

Hemolytic Uremic Syndrome (HUS)

Hemolytic Uremic Syndrome (HUS) is a rare but serious condition that affects the kidneys and blood. It is characterized by the destruction of red blood cells, low platelet count, and damage to the lining of blood vessels. HUS can occur in both children and adults, but it is more common in children. HUS can be caused by infections, medications, or genetic factors such as mutations in the CFHR2 gene.

Symptoms of HUS

The symptoms of HUS can vary from person to person, but they usually include:

• Abdominal pain
• Bloody diarrhea
• Fever
• Headache
• Fatigue
• Low urine output
• Jaundice
• Bruising
• Bleeding from the nose or mouth

Diagnosis of HUS

The diagnosis of HUS usually involves a physical examination, blood tests, and urine tests. The doctor may also order imaging tests such as a CT scan or an MRI. In some cases, a biopsy of the kidney may be required to confirm the diagnosis. Genetic testing may also be ordered to identify mutations in genes such as the CFHR2 gene.

NGS Genetic DNA Test Cost INR:20000

The cost of NGS Genetic DNA Test for Hemolytic Uremic Syndrome in India is approximately INR 20000. This test involves sequencing the CFHR2 gene to identify any mutations that may be associated with HUS. The test is usually done on a blood sample.

Conclusion

Hemolytic Uremic Syndrome is a serious condition that can be caused by genetic factors such as mutations in the CFHR2 gene. The symptoms of HUS can vary from person to person, but they usually include abdominal pain, bloody diarrhea, and low urine output. The diagnosis of HUS usually involves a physical examination, blood tests, and urine tests. Genetic testing may also be ordered to identify mutations in genes such as the CFHR2 gene. The cost of NGS Genetic DNA Test for Hemolytic Uremic Syndrome in India is approximately INR 20000.

If you or someone you know is experiencing symptoms of HUS, it is important to seek medical attention immediately. Early diagnosis and treatment can help to prevent complications and improve outcomes.

For more information on Hemolytic Uremic Syndrome and genetic testing, contact DNA Labs India.

The CFHR2 (Complement Factor H-Related 2) gene encodes a protein that is related to complement factor H, a component of the complement system. The complement system is an important part of the immune response and plays a role in inflammation, immunity, and the clearance of damaged cells.

Genetic variations or mutations in the CFHR2 gene can impact the function of the complement system, potentially contributing to the development of atypical HUS, a form of the condition that is not associated with infections.

NGS (Next-Generation Sequencing) genetic DNA tests can be used to analyze the DNA sequence of genes like CFHR2 to identify any mutations or variants that may be associated with Hemolytic Uremic Syndrome.

If you or someone you know is considering genetic testing for Hemolytic Uremic Syndrome related to the CFHR2 gene, I recommend consulting with a nephrologist, a hematologist, or a genetic counselor. They can provide accurate and current information about the condition, the implications of genetic testing, and any available treatment or management options. Medical knowledge can evolve, so it's important to rely on expert guidance for the latest information.