Short Description

NGS genetic DNA test detecets for variant and mutation detection in PKHD1 gene for Polycystic kidney and hepatic disease

PreTest Information

Clinical History of Patient who is going for PKHD1 Gene Polycystic kidney and hepatic disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PKHD1 Gene Polycystic kidney and hepatic disease NGS Genetic DNA Test gene PKHD1

Detail Description

Understanding Polycystic Kidney and Hepatic Disease with DNA Testing

Polycystic kidney and hepatic disease is a genetic disorder that affects the kidneys and liver. The disease is caused by mutations in the PKHD1 gene, which provides instructions for making a protein that is essential for the development of these organs. The disease is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene - one from each parent - to develop the disease.

Symptoms of Polycystic Kidney and Hepatic Disease

The symptoms of polycystic kidney and hepatic disease vary depending on the severity of the disease. In some cases, individuals may not experience any symptoms until later in life. The most common symptoms of the disease include:

• Abdominal pain or discomfort
• Enlarged liver
• High blood pressure
• Kidney stones
• Pain or tenderness in the abdomen
• Swelling in the abdomen
• Urinary tract infections

Diagnosis of Polycystic Kidney and Hepatic Disease

Diagnosing polycystic kidney and hepatic disease can be challenging, as the symptoms are often similar to those of other conditions. However, there are several tests that can be used to diagnose the disease, including:

• Ultrasound imaging of the kidneys and liver
• Blood tests to check kidney and liver function
• Genetic testing to identify mutations in the PKHD1 gene

NGS Genetic DNA Test for Polycystic Kidney and Hepatic Disease

NGS Genetic DNA testing is a powerful tool that can be used to diagnose polycystic kidney and hepatic disease. The test analyzes an individual's DNA to identify mutations in the PKHD1 gene. The test is highly accurate and can detect mutations in the gene even if the individual does not exhibit any symptoms of the disease.

Cost of NGS Genetic DNA Test for Polycystic Kidney and Hepatic Disease

The cost of the NGS Genetic DNA test for polycystic kidney and hepatic disease in India is approximately INR 20,000. While this may seem like a significant expense, it is important to remember that early detection and diagnosis can help prevent the progression of the disease and improve the individual's quality of life.

Conclusion

Polycystic kidney and hepatic disease can be a devastating condition for those who are affected by it. However, with early detection and diagnosis, individuals can receive the treatment they need to manage their symptoms and prevent the progression of the disease. If you or someone you know is experiencing symptoms of polycystic kidney and hepatic disease, it is important to speak with a healthcare professional and consider the NGS Genetic DNA test as a diagnostic tool.

At DNA Labs India, we offer comprehensive genetic testing services to help individuals better understand their genetic makeup and identify potential health risks. Contact us today to learn more about our services and how we can help you stay healthy.