Short Description

NGS genetic DNA test detecets for variant and mutation detection in NEK8 gene for Nephronophthisis type 9

PreTest Information

Clinical History of Patient who is going for NEK8 Gene Nephronophthisis type 9 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NEK8 Gene Nephronophthisis type 9 NGS Genetic DNA Test gene NEK8

Detail Description

NEK8 Gene Nephronophthisis Type 9 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost in India

Nephronophthisis type 9 (NPHP9) is a rare genetic disorder that affects the kidneys. It is caused by mutations in the NEK8 gene, which provides instructions for making a protein that plays a role in the development and function of the kidneys.

Individuals with NPHP9 may experience symptoms such as:

• Excessive urination
• Increased thirst
• Fatigue
• Weakness
• Shortness of breath
• Anemia
• High blood pressure
• Swelling in the legs or feet
• Slow growth
• Delayed puberty

If left untreated, NPHP9 can lead to end-stage renal disease, which requires dialysis or a kidney transplant.

Diagnosis

NPHP9 is diagnosed through genetic testing, specifically Next Generation Sequencing (NGS) of the NEK8 gene. This test involves analyzing the DNA for mutations or changes in the NEK8 gene that are associated with NPHP9.

The test can be performed on a blood or saliva sample. Once the sample is collected, it is sent to a laboratory for analysis. Results are typically available within a few weeks.

Cost

The cost of the NEK8 gene NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the laboratory performing the test and any additional services that may be required.

It is important to note that genetic testing may not be covered by insurance, so patients should check with their provider before undergoing testing.

Conclusion

NPHP9 is a rare genetic disorder that can lead to serious kidney problems if left untreated. Genetic testing, specifically NGS of the NEK8 gene, can help diagnose the condition and guide treatment. The cost of this test in India is around INR 20,000, but patients should check with their insurance provider to see if it is covered.

Early diagnosis and treatment can help manage symptoms and prevent long-term complications, so it is important for individuals experiencing symptoms of NPHP9 to speak with their healthcare provider about testing options.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for NEK8 Gene Nephronophthisis type 9 NGS Genetic DNA Test