Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC34A3 gene for Hypophosphatemic rickets with hypercalciuria

PreTest Information

Clinical History of Patient who is going for SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria NGS Genetic DNA Test gene SLC34A3

Detail Description

SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria NGS Genetic DNA Test Cost INR: 20000

Hypophosphatemic rickets with hypercalciuria is a rare genetic disorder that affects the kidneys' ability to reabsorb phosphate. This leads to low levels of phosphate in the blood, which can cause rickets, a condition that weakens bones and can cause fractures. The disorder is caused by mutations in the SLC34A3 gene, which provides instructions for making a protein that helps the kidneys reabsorb phosphate.

Symptoms

The symptoms of hypophosphatemic rickets with hypercalciuria can vary depending on the severity of the disease. Some of the most common symptoms include:

• Bone pain
• Weakness
• Bowing of the legs
• Short stature
• Frequent fractures

Diagnosis

Diagnosing hypophosphatemic rickets with hypercalciuria involves a series of tests, including blood tests to measure phosphate and calcium levels, as well as a urine test to measure the amount of calcium and phosphate being excreted by the kidneys. A genetic test can also be done to check for mutations in the SLC34A3 gene.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for hypophosphatemic rickets with hypercalciuria in India is typically around INR 20,000. This test uses next-generation sequencing technology to analyze the SLC34A3 gene and identify any mutations that may be causing the disease.

Conclusion

Hypophosphatemic rickets with hypercalciuria is a rare genetic disorder that can cause significant health problems if left untreated. Fortunately, genetic testing is available to help diagnose the disease and guide treatment decisions. If you or someone you know is experiencing symptoms of hypophosphatemic rickets with hypercalciuria, it's important to speak with a healthcare provider about getting a genetic test.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA tests for hypophosphatemic rickets with hypercalciuria. Our team of experts is dedicated to providing accurate and reliable testing services at an affordable cost. Contact us today to learn more.