Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC4A5 gene for Renal tubular acidosis, SLC4A5 related

PreTest Information

Clinical History of Patient who is going for SLC4A5 Gene Renal tubular acidosis, SLC4A5 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC4A5 Gene Renal tubular acidosis, SLC4A5 related NGS Genetic DNA Test gene SLC4A5

Detail Description

SLC4A5 Gene Renal Tubular Acidosis: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

Renal tubular acidosis (RTA) is a condition in which the kidneys are unable to excrete acid properly, leading to a buildup of acid in the body. This can cause a range of symptoms, including fatigue, muscle weakness, and bone pain. RTA can be caused by a variety of genetic mutations, including mutations in the SLC4A5 gene.

What is the SLC4A5 Gene?

The SLC4A5 gene is responsible for producing a protein called sodium bicarbonate cotransporter 1 (NBCe1). NBCe1 is an important component of the kidney's ability to regulate acid-base balance. Mutations in the SLC4A5 gene can lead to a malfunctioning NBCe1 protein, which in turn can cause RTA.

Symptoms of SLC4A5 Gene Renal Tubular Acidosis

The symptoms of SLC4A5 gene renal tubular acidosis can vary depending on the severity of the condition. Common symptoms include:

• Fatigue
• Muscle weakness
• Bone pain
• Increased urine output
• Dehydration
• Electrolyte imbalances

In severe cases, RTA can lead to kidney stones, chronic kidney disease, and even kidney failure.

Diagnosis of SLC4A5 Gene Renal Tubular Acidosis

Diagnosing SLC4A5 gene renal tubular acidosis typically involves a combination of blood and urine tests to evaluate acid-base balance and kidney function. Genetic testing can also be used to identify mutations in the SLC4A5 gene.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for SLC4A5 gene renal tubular acidosis is approximately INR 20,000. This test can help identify mutations in the SLC4A5 gene and provide information about the patient's risk of developing RTA.

Conclusion

SLC4A5 gene renal tubular acidosis is a rare genetic condition that can cause a range of symptoms and lead to serious complications if left untreated. Diagnosis typically involves a combination of blood and urine tests, as well as genetic testing. NGS genetic DNA testing can help identify mutations in the SLC4A5 gene and provide valuable information about a patient's risk of developing RTA. If you are experiencing symptoms of RTA, it is important to speak with your doctor about getting tested for SLC4A5 gene mutations.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for SLC4A5 gene renal tubular acidosis. Contact us today to learn more about our services and how we can help you get the answers you need.