Short Description

NGS genetic DNA test detecets for variant and mutation detection in CFHR1 gene for Hemolytic uremic syndrome

PreTest Information

Clinical History of Patient who is going for CFHR1 Gene Hemolytic uremic syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CFHR1 Gene Hemolytic uremic syndrome NGS Genetic DNA Test gene CFHR1

Detail Description

CFHR1 Gene Hemolytic Uremic Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

CFHR1 gene is a significant gene responsible for the production of proteins that regulate the complement system, which is a part of the immune system that helps in the defense against infections. However, mutations in the CFHR1 gene can lead to Hemolytic Uremic Syndrome (HUS), a rare and life-threatening disorder that affects the kidneys and other organs.

HUS is characterized by the breakdown of red blood cells (hemolysis) and the formation of blood clots in small blood vessels, leading to kidney damage and failure. The symptoms of HUS include:

• Abdominal pain
• Bloody diarrhea
• Fatigue and weakness
• Decreased urine output
• Unexplained bruises or bleeding

Diagnosis of HUS involves a series of tests, including blood tests, urine tests, and imaging studies. However, NGS (Next Generation Sequencing) Genetic DNA testing is the most advanced and accurate method for diagnosing HUS caused by CFHR1 gene mutations. It involves sequencing the entire CFHR1 gene to identify any mutations that may be causing the disease.

DNA Labs India is one of the leading diagnostic labs that offer NGS Genetic DNA testing for HUS caused by CFHR1 gene mutations. The cost of the test is INR 20000, which is affordable and competitive compared to other labs.

The test is conducted on a small sample of blood or saliva, and the results are usually available within a few weeks. If the test identifies a mutation in the CFHR1 gene, the patient can receive appropriate treatment and management to prevent further complications.

In conclusion, HUS caused by CFHR1 gene mutations is a rare but life-threatening disorder that requires early and accurate diagnosis for effective treatment and management. NGS Genetic DNA testing offered by DNA Labs India is a reliable and affordable method for diagnosing the disease. If you or your loved ones are experiencing any symptoms of HUS, consult a doctor and consider getting tested to ensure timely diagnosis and treatment.