Short Description

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

PreTest Information

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

Detail Description

CLCNKA Gene Bartter Syndrome Type 4b NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Bartter Syndrome is a rare genetic disorder that affects the kidneys. There are five types of Bartter Syndrome, with Type 4b being caused by a mutation in the CLCNKA gene. This gene provides instructions for making a protein that helps regulate the movement of chloride ions in the kidneys. A mutation in this gene disrupts the normal functioning of the protein, leading to the symptoms of Bartter Syndrome.

Symptoms

The symptoms of Bartter Syndrome Type 4b can vary, but typically include:

• Excessive urination
• Excessive thirst
• Muscle weakness and cramps
• Fatigue
• Dehydration
• Low blood pressure
• Delayed growth and development

Symptoms can appear at any age, but are often present at birth or within the first year of life.

Diagnosis

Bartter Syndrome Type 4b is diagnosed through genetic testing. This involves analyzing a sample of DNA to look for mutations in the CLCNKA gene. If a mutation is found, the individual is diagnosed with Bartter Syndrome Type 4b.

In addition to genetic testing, doctors may also perform other tests to confirm the diagnosis and assess the severity of the condition. These tests may include:

• Blood and urine tests to measure electrolyte levels and kidney function
• Imaging tests, such as ultrasound or CT scans, to evaluate the kidneys
• Electrocardiogram (ECG) to check for heart abnormalities

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA Test for CLCNKA Gene Bartter Syndrome Type 4b in India is INR 20000.

Conclusion

Bartter Syndrome Type 4b is a rare genetic disorder that can cause a range of symptoms, including excessive urination, excessive thirst, muscle weakness and cramps, fatigue, dehydration, low blood pressure, and delayed growth and development. It is diagnosed through genetic testing, which can be costly but is necessary to confirm the diagnosis and guide treatment. If you or a loved one is experiencing symptoms of Bartter Syndrome Type 4b, speak with a healthcare provider to determine the best course of action.

At DNA Labs India, we offer the NGS Genetic DNA Test for CLCNKA Gene Bartter Syndrome Type 4b at an affordable cost of INR 20000. Contact us today to learn more.