Short Description

NGS genetic DNA test detecets for variant and mutation detection in DCDC2 gene for Nephronophthisis type 19

PreTest Information

Clinical History of Patient who is going for DCDC2 Gene Nephronophthisis type 19 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DCDC2 Gene Nephronophthisis type 19 NGS Genetic DNA Test gene DCDC2

Detail Description

DCDC2 Gene Nephronophthisis type 19 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

DCDC2 gene Nephronophthisis type 19 (NPHP19) is a rare genetic disorder that affects the kidney's ability to filter waste products from the blood, leading to chronic kidney disease. This condition is caused by mutations in the DCDC2 gene, which provides instructions for making a protein that helps cilia function properly. Cilia are hair-like structures that line the kidney tubules and help to move urine through the kidneys.

If you or someone you know is experiencing symptoms of NPHP19, it's important to get a diagnosis as soon as possible. Genetic testing is the most accurate way to confirm a diagnosis of NPHP19 and determine the specific mutation in the DCDC2 gene.

Symptoms of NPHP19

The symptoms of NPHP19 typically develop in childhood or adolescence and can include:

• Increased thirst and urination
• High blood pressure
• Anemia
• Weakness and fatigue
• Delayed growth and development
• Swelling in the hands, feet, or face
• Decreased urine output
• Loss of appetite
• Nausea and vomiting

These symptoms can vary in severity and may not all be present in every individual with NPHP19.

Diagnosis of NPHP19

A diagnosis of NPHP19 is typically made through genetic testing. This involves analyzing a sample of DNA, usually taken from a blood sample, to look for mutations in the DCDC2 gene.

If you or your child is experiencing symptoms of NPHP19, your doctor may also perform other tests to evaluate kidney function, such as:

• Urine tests to check for protein and blood in the urine
• Blood tests to measure kidney function and electrolyte levels
• Imaging tests, such as ultrasound or CT scan, to look at the kidneys
• Kidney biopsy, which involves taking a small sample of kidney tissue for analysis

These tests can help to confirm a diagnosis of NPHP19 and determine the extent of kidney damage.

NGS Genetic DNA Test for NPHP19

Next-generation sequencing (NGS) is a powerful tool for genetic testing that can analyze multiple genes at once. This makes it an ideal method for testing for NPHP19, which is caused by mutations in a specific gene.

NGS genetic DNA testing for NPHP19 involves sequencing the entire DCDC2 gene to identify any mutations that may be present. This can help to confirm a diagnosis of NPHP19 and provide information about the specific mutation that is causing the condition.

Cost of NGS Genetic DNA Test for NPHP19

The cost of NGS genetic DNA testing for NPHP19 can vary depending on the testing facility and location. In India, the cost of this test is typically around INR 20,000.

It's important to check with your insurance provider to see if genetic testing for NPHP19 is covered under your plan. Some insurance plans may cover the cost of genetic testing for individuals with a family history of the condition or those who have already been diagnosed with NPHP19.

Conclusion

DCDC2 gene Nephronophthisis type 19 is a rare genetic disorder that can cause chronic kidney disease. If you or someone you know is experiencing symptoms of NPHP19, it's important to seek a diagnosis through genetic testing. NGS genetic DNA testing is a powerful tool that can identify mutations in the DCDC2 gene and confirm a diagnosis of NPHP19. The cost of this test in India is typically around INR 20,000. If you have concerns about the cost of genetic testing, be sure to check with your insurance provider to see if it's covered under your plan.