Short Description

NGS genetic DNA test detecets for variant and mutation detection in XDH gene for Xanthinuria type 1

PreTest Information

Clinical History of Patient who is going for XDH Gene Xanthinuria type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Xanthinuria type 1

Detail Description

XDH Gene Xanthinuria Type 1 NGS Genetic DNA Test

Xanthinuria is a rare genetic disorder that affects the metabolism of purines, which are the building blocks of DNA. This disorder is caused by mutations in the XDH gene, which encodes the enzyme xanthine dehydrogenase. Xanthine dehydrogenase is responsible for breaking down purines into uric acid, which is then excreted from the body.

In Xanthinuria type 1, there is a deficiency of xanthine dehydrogenase, which leads to the accumulation of xanthine and hypoxanthine in the body. This can cause a variety of symptoms, including kidney stones, muscle weakness, and joint pain.

Symptoms of Xanthinuria Type 1

The symptoms of Xanthinuria type 1 can vary from person to person, but some of the most common symptoms include:

• Kidney stones
• Muscle weakness
• Joint pain
• Yellowish discoloration of the eyes and skin
• Developmental delay

Diagnosis of Xanthinuria Type 1

Xanthinuria type 1 is diagnosed through a combination of clinical evaluation and genetic testing. A healthcare provider will evaluate a patient's symptoms and medical history to determine if they may have Xanthinuria type 1.

If Xanthinuria type 1 is suspected, a genetic test can be performed to confirm the diagnosis. The XDH gene can be analyzed using next-generation sequencing (NGS) technology, which can identify mutations in the gene that may be causing the disorder.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for Xanthinuria type 1 can vary depending on the testing facility. At DNA Labs India, the cost of this test is INR 20,000.

Conclusion

Xanthinuria type 1 is a rare genetic disorder that can cause a variety of symptoms, including kidney stones, muscle weakness, and joint pain. If you or someone you know is experiencing these symptoms, it is important to speak with a healthcare provider and consider genetic testing. DNA Labs India offers an NGS genetic DNA test for Xanthinuria type 1 at a cost of INR 20,000.

Early diagnosis and treatment can help manage the symptoms of Xanthinuria type 1 and improve quality of life for those affected by this disorder.

For more information on Xanthinuria type 1 or genetic testing, please contact DNA Labs India.