Short Description

NGS genetic DNA test detecets for variant and mutation detection in CD46 gene for Hemolytic uremic syndrome, atypical type 2, susceptibility to

PreTest Information

Clinical History of Patient who is going for CD46 Gene Hemolytic uremic syndrome, atypical type 2, susceptibility to NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CD46 Gene Hemolytic uremic syndrome, atypical type 2, susceptibility to NGS Genetic DNA Test gene CD46

Detail Description

CD46 Gene Hemolytic Uremic Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

CD46 gene hemolytic uremic syndrome (HUS) is a rare genetic disorder that affects the blood vessels and can lead to kidney failure. It is also known as atypical type 2 HUS because it is caused by mutations in the CD46 gene, which plays a role in regulating the immune system and protecting cells from damage.

NGS Genetic DNA testing can help diagnose CD46 gene HUS by identifying mutations in the CD46 gene. This test uses next-generation sequencing technology to analyze DNA samples and detect genetic changes that may be causing the disorder.

Symptoms of CD46 Gene Hemolytic Uremic Syndrome

The symptoms of CD46 gene HUS can vary depending on the severity of the disorder. Some common symptoms include:

• Bloody diarrhea
• Abdominal pain
• Fever
• Fatigue
• Reduced urine output
• Swelling in the legs, ankles, or feet

In severe cases, CD46 gene HUS can lead to kidney failure, which may require dialysis or a kidney transplant.

Diagnosis of CD46 Gene Hemolytic Uremic Syndrome

Diagnosing CD46 gene HUS can be challenging because it is a rare disorder and its symptoms can be similar to other conditions. Doctors may use a combination of tests, including:

• Blood tests to check for anemia and low platelet count
• Urine tests to check for protein and blood in the urine
• Genetic testing to check for mutations in the CD46 gene

A genetic test can confirm a diagnosis of CD46 gene HUS and help doctors develop a treatment plan.

NGS Genetic DNA Test Cost at DNA Labs India

The cost of an NGS Genetic DNA test for CD46 gene HUS at DNA Labs India is INR 20,000. This test can help diagnose the disorder and guide treatment decisions, potentially improving outcomes for patients.

If you or a loved one is experiencing symptoms of CD46 gene HUS, talk to your doctor about genetic testing and how it can help. DNA Labs India offers reliable and affordable NGS Genetic DNA testing services to help diagnose rare genetic disorders like CD46 gene HUS.

The CD46 gene encodes a protein known as membrane cofactor protein (MCP), which plays a role in regulating the complement system, a part of the immune system involved in fighting infections and clearing out damaged cells.

Mutations in the CD46 gene can lead to susceptibility to Atypical Hemolytic Uremic Syndrome Type 2. These mutations can disrupt the normal regulatory function of the complement system, leading to excessive activation and inflammation in the blood vessels.

NGS (Next-Generation Sequencing) genetic DNA tests are used to analyze the DNA sequence of genes like CD46 to identify any mutations or variants that may be associated with susceptibility to Atypical Hemolytic Uremic Syndrome Type 2.

If you or someone you know is considering genetic testing for Atypical Hemolytic Uremic Syndrome related to the CD46 gene, I recommend consulting with a nephrologist (kidney specialist), a medical geneticist, or a genetic counselor. They can provide accurate and current information about the condition, the implications of genetic testing, and any available treatment options. Medical knowledge can evolve, so it's important to rely on expert guidance for the latest information.