Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC12A3 gene for Bartter syndrome

PreTest Information

Clinical History of Patient who is going for SLC12A3 Gene Bartter syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC12A3 Gene Bartter syndrome NGS Genetic DNA Test gene SLC12A3

Detail Description

SLC12A3 Gene Bartter Syndrome NGS Genetic DNA Test Cost INR 20000: Symptoms & Diagnosis

Bartter Syndrome is a rare genetic disorder characterized by renal salt wasting, metabolic alkalosis, and hypokalemia. The disease is named after Frederic Bartter, an American physician who first described it in 1962. It is caused by mutations in several genes, including SLC12A3, which encodes the thiazide-sensitive sodium-chloride cotransporter.

SLC12A3 gene mutations are responsible for the most common type of Bartter Syndrome, which is also known as Type 1. This gene is located on chromosome 16q13 and encodes a protein that is essential for the reabsorption of sodium and chloride ions from the urine. Mutations in this gene disrupt this process and lead to the loss of salt and water in the urine.

Symptoms of Bartter Syndrome

The symptoms of Bartter Syndrome vary depending on the type and severity of the disease. The most common symptoms include:

• Excessive urination
• Dehydration
• Muscle weakness and cramps
• Nausea and vomiting
• Fatigue
• Constipation
• High blood pressure
• Increased heart rate
• Delayed growth and development in children

Diagnosis of Bartter Syndrome

The diagnosis of Bartter Syndrome is based on clinical symptoms, laboratory tests, and genetic testing. The first step in the diagnosis is a physical examination and a review of the patient's medical history. The doctor may perform blood and urine tests to measure electrolyte levels and kidney function. Genetic testing is also available to confirm the diagnosis and identify the specific gene mutation.

SLC12A3 Gene Bartter Syndrome NGS Genetic DNA Test Cost INR 20000

NGS (Next-Generation Sequencing) is a powerful technology that allows for the sequencing of multiple genes simultaneously. This method is used for genetic testing and diagnosis of various diseases, including Bartter Syndrome. The SLC12A3 gene Bartter Syndrome NGS Genetic DNA Test cost is INR 20000.

The test is non-invasive and involves taking a small blood sample from the patient. The sample is sent to a laboratory where it is analyzed using NGS technology. The results of the test are usually available within 2-4 weeks.

Conclusion

Bartter Syndrome is a rare genetic disorder that can cause significant health problems if left untreated. The SLC12A3 gene Bartter Syndrome NGS Genetic DNA Test is a powerful tool for the diagnosis of this disease. The cost of the test is INR 20000, and it is non-invasive and easy to perform. If you or someone you know is experiencing symptoms of Bartter Syndrome, it is important to seek medical attention and get tested for the disease.

At DNA Labs India, we offer a wide range of genetic testing services, including the SLC12A3 gene Bartter Syndrome NGS Genetic DNA Test. Our team of experts is dedicated to providing accurate and timely results to our clients. Contact us today to learn more about our services.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SLC12A3 Gene Bartter syndrome NGS Genetic DNA Test