Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC12A2 gene for Bartter syndrome

PreTest Information

Clinical History of Patient who is going for SLC12A2 Gene Bartter syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC12A2 Gene Bartter syndrome NGS Genetic DNA Test gene SLC12A2

Detail Description

SLC12A2 Gene Bartter Syndrome NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Bartter Syndrome 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 SLC12A2 gene, which is responsible for encoding a protein that regulates the transport of salt and water in the kidneys. The disorder is usually diagnosed in childhood and can lead to a variety of symptoms and complications if left untreated.

Symptoms of Bartter Syndrome

The symptoms of Bartter Syndrome can vary depending on the severity of the disorder. Some common symptoms include:

• Excessive urination
• Dehydration
• Fatigue
• Muscle weakness and cramps
• High blood pressure
• Abdominal pain
• Vomiting
• Delayed growth and development in children

Diagnosis of Bartter Syndrome

Bartter Syndrome is usually diagnosed in childhood based on a combination of symptoms, medical history, and laboratory tests. These tests may include:

• Blood and urine tests to measure electrolyte levels
• Kidney function tests
• Genetic testing to identify mutations in the SLC12A2 gene

SLC12A2 Gene NGS Genetic DNA Test

The SLC12A2 gene NGS Genetic DNA Test is a diagnostic test that can identify mutations in the SLC12A2 gene that cause Bartter Syndrome. This test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the gene and identify any variations or mutations that may be present. The test is highly accurate and can detect even small changes in the gene sequence.

Cost of SLC12A2 Gene NGS Genetic DNA Test

The cost of the SLC12A2 Gene NGS Genetic DNA Test for Bartter Syndrome in India is INR 20000. The test is available at DNA Labs India, a leading provider of genetic testing services in the country. The cost of the test may vary depending on the location and other factors.

Conclusion

Bartter Syndrome is a rare genetic disorder that can cause a variety of symptoms and complications if left untreated. The SLC12A2 Gene NGS Genetic DNA Test is a highly accurate and reliable diagnostic test that can identify mutations in the SLC12A2 gene that cause the disorder. The test is available at DNA Labs India at a cost of INR 20000. If you or your child are experiencing symptoms of Bartter Syndrome, it is important to talk to your doctor about getting tested for the disorder.