Short Description

NGS genetic DNA test detecets for variant and mutation detection in NPHP4 gene for Nephronophthisis type 4

PreTest Information

Clinical History of Patient who is going for NPHP4 Gene Nephronophthisis type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NPHP4 Gene Nephronophthisis type 4 NGS Genetic DNA Test gene NPHP4

Detail Description

NPHP4 Gene Nephronophthisis Type 4 NGS Genetic DNA Test

Nephronophthisis (NPHP) is a rare genetic disorder that affects the kidneys. It is characterized by the formation of cysts in the kidneys, which can lead to kidney failure in the later stages of the disease. NPHP is caused by mutations in various genes, one of which is the NPHP4 gene.

The NPHP4 gene provides instructions for making a protein that is essential for the normal functioning of the kidneys. Mutations in this gene can result in the formation of abnormal proteins that disrupt the normal functioning of the kidneys, leading to the development of NPHP type 4.

Symptoms of NPHP Type 4

The symptoms of NPHP type 4 can vary from person to person. Some of the most common symptoms include:

• Increased urination
• Excessive thirst
• Weakness and fatigue
• Weight loss
• Anemia
• High blood pressure
• Swelling of the legs and feet
• Back pain
• Frequent urinary tract infections
• Difficulty concentrating

These symptoms may appear in childhood or adolescence and may gradually worsen over time.

Diagnosis of NPHP Type 4

Diagnosis of NPHP type 4 involves a combination of physical examination, blood tests, and imaging studies. Genetic testing is also used to confirm the diagnosis.

The NPHP4 gene NGS genetic DNA test is a type of genetic testing that uses Next Generation Sequencing (NGS) technology to analyze the NPHP4 gene. This test can detect mutations in the NPHP4 gene that are associated with NPHP type 4.

Genetic testing is usually recommended for individuals who have a family history of NPHP or who have symptoms of the disease.

Cost of NPHP4 Gene Nephronophthisis Type 4 NGS Genetic DNA Test

The cost of the NPHP4 gene Nephronophthisis type 4 NGS genetic DNA test in India is approximately INR 20,000. The cost may vary depending on the laboratory where the test is performed.

Conclusion

NPHP type 4 is a rare genetic disorder that affects the kidneys. Symptoms can vary from person to person, and diagnosis involves a combination of physical examination, blood tests, imaging studies, and genetic testing.

The NPHP4 gene NGS genetic DNA test is a useful tool for confirming the diagnosis of NPHP type 4. The cost of the test may vary depending on the laboratory where it is performed.

If you suspect that you or a family member may have NPHP type 4, it is important to consult with a healthcare professional who can provide a proper diagnosis and recommend appropriate treatment options.