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Accurate Test Results for XPNPEP3 Gene Nephronophthisis-like nephropathy type 1 NGS Genetic DNA Test
XPNPEP3 Gene Nephronophthisis-like nephropathy type 1 NGS Genetic DNA Test Cost 20000 Rs
XPNPEP3 Gene Nephronophthisis-like nephropathy type 1 NGS Genetic DNA Test Details
XPNPEP3 Gene Nephronophthisis-like nephropathy type 1 NGS Genetic DNA Test
Nephronophthisis-like nephropathy type 1 is a rare genetic disorder that affects the kidneys. It is caused by mutations in the XPNPEP3 gene. This gene provides instructions for making an enzyme called X-prolyl aminopeptidase 3. This enzyme is involved in the breakdown of proteins in the body. Mutations in the XPNPEP3 gene lead to the production of a non-functional enzyme, which results in the buildup of protein fragments in the kidneys. This buildup can cause damage to the kidneys, leading to a gradual loss of kidney function.
Symptoms of Nephronophthisis-like nephropathy type 1
The symptoms of Nephronophthisis-like nephropathy type 1 usually appear in childhood or adolescence. The most common symptoms include:
- Frequent urination
- Excessive thirst
- Weakness and fatigue
- Shortness of breath
- Swelling in the legs and ankles
- High blood pressure
- Proteinuria (excess protein in the urine)
If left untreated, Nephronophthisis-like nephropathy type 1 can lead to end-stage renal disease, which requires dialysis or a kidney transplant.
Diagnosis of Nephronophthisis-like nephropathy type 1
Nephronophthisis-like nephropathy type 1 is diagnosed based on the symptoms, family history, and genetic testing. A doctor may perform a urine test to check for proteinuria and a blood test to check for kidney function. Imaging tests like ultrasound, CT scan, or MRI may also be performed to evaluate the kidneys.
Genetic testing is the most reliable method of diagnosing Nephronophthisis-like nephropathy type 1. It involves analyzing the DNA of the patient to look for mutations in the XPNPEP3 gene. This can be done using a Next-Generation Sequencing (NGS) genetic DNA test.
NGS Genetic DNA Test for Nephronophthisis-like nephropathy type 1
The NGS genetic DNA test for Nephronophthisis-like nephropathy type 1 involves sequencing the XPNPEP3 gene to look for mutations. This test is highly accurate and can detect even small mutations in the gene. It is a non-invasive test that requires only a blood or saliva sample from the patient.
Cost of NGS Genetic DNA Test for Nephronophthisis-like nephropathy type 1
The cost of the NGS genetic DNA test for Nephronophthisis-like nephropathy type 1 in India is around INR 20,000. The cost may vary depending on the testing facility and the location.
Conclusion
Nephronophthisis-like nephropathy type 1 is a rare genetic disorder that can lead to kidney failure if left untreated. Genetic testing using NGS technology can accurately diagnose the condition and help in early intervention and management. The cost of the test is affordable and accessible in India. If you or someone you know is showing symptoms of Nephronophthisis-like nephropathy type 1, it is important to consult a doctor and undergo genetic testing for early diagnosis and treatment.
For more information on NGS Genetic DNA testing for Nephronophthisis-like nephropathy type 1, contact DNA Labs India.
