Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC12A1 gene for Bartter syndrome type 1

PreTest Information

Clinical History of Patient who is going for SLC12A1 Gene Bartter syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC12A1 Gene Bartter syndrome type 1 NGS Genetic DNA Test gene SLC12A1

Detail Description

SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test Cost INR 20,000 - Symptoms, Diagnosis

Have you ever heard of Bartter Syndrome? It is a rare genetic disorder that affects the kidneys and causes an imbalance of electrolytes in the body. Bartter Syndrome is caused by mutations in the SLC12A1 gene, which is responsible for producing a protein that helps the kidneys reabsorb sodium and chloride. When this gene is mutated, the kidneys are unable to properly reabsorb these electrolytes, leading to an excess loss of salt and water.

Bartter Syndrome is classified into five different types, with Type 1 being the most severe. Symptoms of Bartter Syndrome Type 1 can include:

• Dehydration
• Frequent urination
• Constipation
• Muscle weakness
• Failure to thrive (in infants)

If you or a loved one is experiencing any of these symptoms, it is important to consult with a healthcare professional for proper diagnosis. One way to diagnose Bartter Syndrome Type 1 is through a genetic DNA test.

NGS Genetic DNA Test for Bartter Syndrome Type 1

NGS (Next-Generation Sequencing) is a type of genetic DNA test that can analyze multiple genes at once to identify mutations that may be causing a genetic disorder. The NGS Genetic DNA Test for Bartter Syndrome Type 1 specifically analyzes the SLC12A1 gene for mutations.

The cost of the NGS Genetic DNA Test for Bartter Syndrome Type 1 in India is INR 20,000. This cost may vary depending on the testing facility and any additional testing or consultation fees.

Diagnosing Bartter Syndrome Type 1

In addition to genetic DNA testing, healthcare professionals may use a variety of diagnostic tests to confirm a diagnosis of Bartter Syndrome Type 1. These tests may include:

• Blood and urine tests to check for electrolyte imbalances
• Imaging tests (such as a CT scan or MRI) to evaluate the kidneys
• Genetic counseling to discuss the inheritance pattern of the disorder

It is important to work with a healthcare professional to determine the best diagnostic approach for your individual situation.

Conclusion

Bartter Syndrome Type 1 is a rare genetic disorder that can cause a variety of symptoms related to electrolyte imbalances. If you or a loved one is experiencing any of these symptoms, it is important to seek medical attention for proper diagnosis and treatment.

The NGS Genetic DNA Test for Bartter Syndrome Type 1 is one way to diagnose this disorder and costs INR 20,000 in India. However, it is important to work with a healthcare professional to determine the best diagnostic approach for your individual situation.

At DNA Labs India, we offer a variety of genetic testing services, including the NGS Genetic DNA Test for Bartter Syndrome Type 1. Contact us today to learn more about our services and how we can help you.

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 SLC12A1 Gene Bartter syndrome type 1 NGS Genetic DNA Test