Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC4A4 gene for Renal tubular acidosis, proximal, with ocular abnormalities

PreTest Information

Clinical History of Patient who is going for SLC4A4 Gene Renal tubular acidosis, proximal, with ocular abnormalities NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC4A4 Gene Renal tubular acidosis, proximal, with ocular abnormalities NGS Genetic DNA Test gene SLC4A4

Detail Description

SLC4A4 Gene Renal Tubular Acidosis, Proximal, with Ocular Abnormalities NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Renal tubular acidosis is a condition in which the kidneys are unable to maintain the acid-base balance of the body. There are different types of renal tubular acidosis, and one of them is proximal renal tubular acidosis with ocular abnormalities. This condition is caused by a mutation in the SLC4A4 gene, which is responsible for the production of a protein that helps the kidneys to reabsorb bicarbonate, a substance that neutralizes acid in the body.

Symptoms of Proximal Renal Tubular Acidosis with Ocular Abnormalities

The symptoms of this condition can vary from person to person and may include:

• Weakness
• Fatigue
• Loss of appetite
• Nausea and vomiting
• Dehydration
• Increased urination
• Bone pain
• Eye problems, such as cataracts and glaucoma

Diagnosis of Proximal Renal Tubular Acidosis with Ocular Abnormalities

A diagnosis of this condition is usually made through a combination of blood tests, urine tests, and imaging studies. The blood tests may show a low bicarbonate level, while the urine tests may show a high level of calcium and other substances. Imaging studies, such as a CT scan or MRI, may be used to look for abnormalities in the kidneys or other organs.

NGS Genetic DNA Test for SLC4A4 Gene

A genetic test can also be done to confirm a diagnosis of proximal renal tubular acidosis with ocular abnormalities. This test looks for mutations in the SLC4A4 gene and can be done using next-generation sequencing (NGS) technology. The cost of this test in India is around INR 20,000.

Conclusion

If you or someone you know is experiencing symptoms of proximal renal tubular acidosis with ocular abnormalities, it is important to seek medical attention right away. A genetic test can help confirm a diagnosis and guide treatment options. DNA Labs India offers NGS genetic DNA testing for the SLC4A4 gene at an affordable cost of INR 20,000.