Short Description

NGS genetic DNA test detecets for variant and mutation detection in CFHR3 gene for Hemolytic uremic syndrome

PreTest Information

Clinical History of Patient who is going for CFHR3 Gene Hemolytic uremic syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CFHR3 Gene Hemolytic uremic syndrome NGS Genetic DNA Test gene CFHR3

Detail Description

CFHR3 Gene Hemolytic Uremic Syndrome NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Hemolytic uremic syndrome (HUS) is a rare but serious condition that affects the blood and blood vessels. It is characterized by the destruction of red blood cells and the formation of small blood clots in the blood vessels, which can lead to kidney failure, anemia, and low platelet count.

HUS can be caused by a variety of factors, including infections, medications, and genetic mutations. One such genetic mutation that has been linked to HUS is a variant in the CFHR3 gene.

What is the CFHR3 Gene?

The CFHR3 gene is responsible for producing a protein called complement factor H-related protein 3. This protein is involved in regulating the body's complement system, which is a part of the immune system that helps to destroy foreign invaders such as bacteria and viruses.

However, certain mutations in the CFHR3 gene can lead to overactivation of the complement system, which can contribute to the development of HUS.

Symptoms of CFHR3 Gene Hemolytic Uremic Syndrome

The symptoms of CFHR3 gene HUS can vary from person to person, but typically include:

• Abdominal pain
• Bloody diarrhea
• Decreased urine output
• Fatigue
• Fever
• Headache
• Jaundice
• Nausea and vomiting
• Pale skin
• Rapid heartbeat

If left untreated, CFHR3 gene HUS can lead to serious complications such as kidney failure, neurological problems, and even death.

Diagnosis of CFHR3 Gene Hemolytic Uremic Syndrome

CFHR3 gene HUS can be diagnosed through a variety of tests, including:

• Blood tests to check for anemia and low platelet count
• Urine tests to check for protein and blood in the urine
• Stool tests to check for the presence of bacteria or viruses
• Genetic testing to check for mutations in the CFHR3 gene

A diagnosis of CFHR3 gene HUS may also involve imaging tests such as ultrasound or CT scans to check for damage to the kidneys or other organs.

CFHR3 Gene Hemolytic Uremic Syndrome NGS Genetic DNA Test

The CFHR3 gene HUS can be diagnosed through a specialized genetic test known as Next-Generation Sequencing (NGS).

NGS is a powerful tool that allows for the analysis of large amounts of genetic data in a relatively short period of time. This type of test can identify mutations in the CFHR3 gene that may be contributing to the development of HUS.

Cost of CFHR3 Gene Hemolytic Uremic Syndrome NGS Genetic DNA Test

The cost of CFHR3 gene HUS NGS genetic DNA testing in India is typically around INR 20,000.

It is important to note that this cost may vary depending on the specific laboratory or testing facility that is used.

Conclusion

CFHR3 gene HUS is a rare but serious condition that can lead to kidney failure, anemia, and low platelet count. If you are experiencing symptoms of HUS, it is important to seek medical attention right away.

A specialized genetic test known as NGS can be used to diagnose CFHR3 gene HUS. While the cost of this test may vary, it is an important tool in the diagnosis and treatment of this condition.

The CFHR3 (Complement Factor H-Related 3) 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 CFHR3 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 CFHR3 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 CFHR3 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.