Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC12A5 gene for Bartter syndrome

PreTest Information

Clinical History of Patient who is going for SLC12A5 Gene Bartter syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC12A5 Gene Bartter syndrome NGS Genetic DNA Test gene SLC12A5

Detail Description

SLC12A5 Gene Bartter Syndrome NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Bartter syndrome is a rare genetic disorder that affects the kidneys' ability to reabsorb salt and electrolytes. This leads to excessive salt and water loss, which can cause dehydration, muscle weakness, and other complications. Bartter syndrome is caused by mutations in several genes, including the SLC12A5 gene.

The SLC12A5 gene provides instructions for making a protein called the chloride channel kidney B (KCC1). This protein helps regulate the transport of chloride ions in the kidney. Mutations in the SLC12A5 gene can disrupt the function of KCC1, leading to Bartter syndrome.

What is an NGS Genetic DNA Test?

Next-generation sequencing (NGS) is a high-throughput DNA sequencing technology that can rapidly generate large amounts of DNA sequence data. NGS genetic DNA tests can detect mutations in genes associated with genetic disorders like Bartter syndrome.

NGS genetic DNA tests can analyze multiple genes simultaneously, making them useful for diagnosing complex genetic disorders like Bartter syndrome. NGS tests can also detect rare or novel mutations that may not be detected by other genetic testing methods.

What are the Symptoms of Bartter Syndrome?

Bartter syndrome can cause a variety of symptoms, including:

• Dehydration
• Muscle weakness or cramps
• Fatigue
• Nausea and vomiting
• Constipation
• Increased urine output
• Weight loss

These symptoms can vary in severity depending on the type of Bartter syndrome and the age of the affected individual.

How is Bartter Syndrome Diagnosed?

Bartter syndrome is typically diagnosed using a combination of clinical evaluation, laboratory tests, and genetic testing.

Laboratory tests can help identify abnormalities in the levels of electrolytes in the blood or urine, which can be a sign of Bartter syndrome. Genetic testing can detect mutations in genes associated with Bartter syndrome, including the SLC12A5 gene.

What is the Cost of an SLC12A5 Gene Bartter Syndrome NGS Genetic DNA Test?

The cost of an SLC12A5 gene Bartter syndrome NGS genetic DNA test in India is approximately INR 20,000.

NGS genetic DNA tests can be expensive, but they are often covered by health insurance plans. Patients should check with their insurance provider to see if genetic testing is covered under their plan.

Conclusion

Bartter syndrome is a rare genetic disorder that can cause a variety of symptoms, including dehydration, muscle weakness, and fatigue. Genetic testing can help diagnose Bartter syndrome and identify mutations in genes like SLC12A5. NGS genetic DNA tests can rapidly analyze multiple genes simultaneously, making them useful for diagnosing complex genetic disorders like Bartter syndrome.

If you or a loved one is experiencing symptoms of Bartter syndrome, consult with a healthcare professional to discuss diagnostic testing and treatment options.

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 SLC12A5 Gene Bartter syndrome NGS Genetic DNA Test