Short Description

NGS genetic DNA test detecets for variant and mutation detection in NPHP3 gene for Nephronophthisis type 3

PreTest Information

Clinical History of Patient who is going for NPHP3 Gene Nephronophthisis type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NPHP3 Gene Nephronophthisis type 3 NGS Genetic DNA Test gene NPHP3

Detail Description

NPHP3 Gene Nephronophthisis Type 3 NGS Genetic DNA Test Cost INR 20000: Symptoms, Diagnosis, and Importance

Genetic testing has become an essential tool in diagnosing and treating various medical conditions. One such condition is Nephronophthisis, a rare genetic disorder that affects the kidneys. Nephronophthisis type 3 (NPHP3) is caused by mutations in the NPHP3 gene and is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Symptoms of Nephronophthisis Type 3

The symptoms of NPHP3 can vary widely among individuals and may include:

• Excessive thirst and urination
• Frequent urinary tract infections
• Polyuria (excessive urine production)
• Nocturnal enuresis (bedwetting)
• High blood pressure
• Renal failure

These symptoms typically develop in childhood or adolescence, and the severity of the condition can range from mild to severe. Early diagnosis and treatment can help manage the symptoms and prevent complications.

Diagnosis of Nephronophthisis Type 3

The diagnosis of NPHP3 typically involves a physical examination, medical history, and genetic testing. A doctor may order a urine test to check for protein and blood in the urine, which can be an early sign of kidney damage. Blood tests may also be ordered to measure kidney function and electrolyte levels.

Genetic testing is the most accurate way to diagnose NPHP3. This involves analyzing a sample of the patient's DNA to look for mutations in the NPHP3 gene. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes simultaneously, making it a faster and more cost-effective option.

The Importance of Genetic Testing for NPHP3

Genetic testing for NPHP3 is important for several reasons:

• Early diagnosis can help manage the symptoms and prevent complications.
• Genetic testing can identify carriers of the mutated gene, allowing for informed family planning decisions.
• Genetic testing can help with the development of new treatments and therapies for Nephronophthisis.

Cost of NPHP3 NGS Genetic DNA Test

The cost of NPHP3 NGS Genetic DNA Test in India is approximately INR 20000. This cost may vary depending on the laboratory and location.

Conclusion

Nephronophthisis type 3 is a rare genetic disorder that affects the kidneys. Early diagnosis and treatment are crucial in managing the symptoms and preventing complications. Genetic testing, specifically NGS, is an accurate and cost-effective way to diagnose NPHP3. The cost of NPHP3 NGS Genetic DNA Test in India is INR 20000. If you or a loved one are experiencing symptoms of Nephronophthisis, speak to a healthcare provider about genetic testing and treatment 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 NPHP3 Gene Nephronophthisis type 3 NGS Genetic DNA Test