Short Description

NGS genetic DNA test detecets for variant and mutation detection in CEP164 gene for Nephronophthisis type 15

PreTest Information

Clinical History of Patient who is going for CEP164 Gene Nephronophthisis type 15 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP164 Gene Nephronophthisis type 15 NGS Genetic DNA Test gene CEP164

Detail Description

CEP164 Gene Nephronophthisis Type 15 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost in India

Nephronophthisis type 15 (NPHP15) is a rare genetic disorder that affects the kidneys. It is caused by mutations in the CEP164 gene, which provides instructions for making a protein that is important for the structure and function of cilia. Cilia are tiny, hair-like structures that line the respiratory tract, fallopian tubes, and other organs. They play a crucial role in the movement of fluids and substances throughout the body.

Symptoms of Nephronophthisis Type 15

The symptoms of NPHP15 usually appear in childhood or adolescence and can vary from person to person. Some common symptoms include:

• Increased thirst and urination
• Reduced urine output
• High blood pressure
• Swelling of the legs and ankles
• Fatigue and weakness
• Pale skin
• Anemia
• Delayed growth and development

Diagnosis of Nephronophthisis Type 15

The diagnosis of NPHP15 is based on a combination of clinical symptoms, family history, and genetic testing. A doctor may order imaging tests such as an ultrasound or CT scan to evaluate the kidneys and other organs. Blood and urine tests may also be performed to assess kidney function.

The most reliable method of diagnosis is genetic testing, which can detect mutations in the CEP164 gene. Next-generation sequencing (NGS) is a powerful technique that can analyze multiple genes simultaneously, making it a cost-effective and efficient method of testing. NGS can also identify rare and novel mutations that may not be detected by other methods.

CEP164 Gene Nephronophthisis Type 15 NGS Genetic DNA Test Cost in India

The cost of CEP164 gene Nephronophthisis type 15 NGS genetic DNA testing in India is around INR 20,000. The cost may vary depending on the laboratory and the extent of testing required. Some insurance plans may cover the cost of genetic testing, so it is important to check with your provider.

Conclusion

Nephronophthisis type 15 is a rare genetic disorder that can have serious consequences if left untreated. Early diagnosis and treatment can help to slow the progression of the disease and improve outcomes. Genetic testing, particularly NGS, is a reliable and cost-effective method of diagnosis that can provide valuable information for patients and their families.

If you suspect that you or someone you know may have NPHP15, it is important to consult a doctor and discuss the possibility of genetic testing. DNA Labs India offers a range of genetic testing services, including NGS testing for NPHP15. Contact us today to learn more about our services and how we can help.