Short Description

NGS genetic DNA test detecets for variant and mutation detection in BSND gene for Bartter syndrome type 4a

PreTest Information

Clinical History of Patient who is going for BSND Gene Bartter syndrome type 4a NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BSND Gene Bartter syndrome type 4a NGS Genetic DNA Test gene BSND

Detail Description

Understanding BSND Gene and Bartter Syndrome Type 4a

Bartter Syndrome Type 4a is a rare genetic disorder that affects the kidneys and causes an imbalance of electrolytes in the body. It is caused by mutations in the BSND gene, which provides instructions for making a protein that is important for the proper functioning of the kidneys.

People with Bartter Syndrome Type 4a have difficulty reabsorbing certain electrolytes, such as potassium and magnesium, in the kidneys. This leads to low levels of these electrolytes in the blood, which can cause symptoms such as muscle weakness, fatigue, and heart palpitations.

Symptoms of Bartter Syndrome Type 4a

The symptoms of Bartter Syndrome Type 4a can vary widely from person to person and can range from mild to severe. Some common symptoms include:

• Muscle weakness
• Fatigue
• Heart palpitations
• Low blood pressure
• Increased thirst and urination
• Growth delay in children

It is important to note that not all people with Bartter Syndrome Type 4a will experience all of these symptoms, and some people may have no symptoms at all.

Diagnosing Bartter Syndrome Type 4a

Bartter Syndrome Type 4a is typically diagnosed through genetic testing. This involves analyzing a person's DNA to look for mutations in the BSND gene. If a mutation is found, it confirms the diagnosis of Bartter Syndrome Type 4a.

In addition to genetic testing, doctors may also perform blood and urine tests to check for electrolyte imbalances and other abnormalities that are characteristic of Bartter Syndrome Type 4a.

BSND Gene NGS Genetic DNA Test Cost in India

The cost of a BSND gene NGS genetic DNA test in India is approximately INR 20,000. This test is typically covered by insurance, but it is important to check with your insurance provider to confirm coverage.

Conclusion

Bartter Syndrome Type 4a is a rare genetic disorder that affects the kidneys and causes an imbalance of electrolytes in the body. It is caused by mutations in the BSND gene, and is typically diagnosed through genetic testing. The cost of a BSND gene NGS genetic DNA test in India is approximately INR 20,000. If you or a loved one is experiencing symptoms of Bartter Syndrome Type 4a, it is important to talk to your doctor about genetic testing and other diagnostic options.

At DNA Labs India, we offer a range of genetic testing services, including BSND gene NGS genetic DNA testing. Our team of experts is dedicated to providing accurate and reliable results to help you better understand your genetic health. Contact us today to learn more.