Short Description

NGS genetic DNA test detecets for variant and mutation detection in NPHS1 gene for Nephrosis, Finnish type

PreTest Information

Clinical History of Patient who is going for NPHS1 Gene Nephrosis, Finnish type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NPHS1 Gene Nephrosis, Finnish type NGS Genetic DNA Test gene NPHS1

Detail Description

NPHS1 Gene Nephrosis, Finnish type NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

NPHS1 gene nephrosis is a rare genetic disease that affects the kidneys and can lead to kidney failure. It is also known as Finnish type congenital nephrosis. This disease is caused by mutations in the NPHS1 gene, which provides instructions for making a protein called nephrin. Nephrin is an essential component of the glomerular filtration barrier in the kidneys, which filters waste products from the blood and removes them from the body.

Symptoms of NPHS1 Gene Nephrosis

Symptoms of NPHS1 gene nephrosis typically begin in the first few months of life. Infants with this disease may have difficulty gaining weight and may experience swelling in the legs, abdomen, and face. They may also have frothy urine due to excess protein in the urine.

Diagnosis of NPHS1 Gene Nephrosis

NPHS1 gene nephrosis can be diagnosed through genetic testing. A DNA sample is taken from the patient, and the NPHS1 gene is sequenced to look for mutations. If a mutation is found, it confirms the diagnosis of NPHS1 gene nephrosis.

NGS Genetic DNA Test cost INR:20000

The NGS genetic DNA test for NPHS1 gene nephrosis costs INR 20,000. This test is performed using next-generation sequencing technology, which allows for the rapid sequencing of large portions of the genome.

Treatment of NPHS1 Gene Nephrosis

There is no cure for NPHS1 gene nephrosis, and treatment is focused on managing the symptoms of the disease. This may include medications to control blood pressure and reduce proteinuria, as well as dietary changes to reduce salt intake. In severe cases, dialysis or kidney transplantation may be necessary.

Conclusion

NPHS1 gene nephrosis is a rare genetic disease that affects the kidneys and can lead to kidney failure. It is caused by mutations in the NPHS1 gene, which provides instructions for making a protein called nephrin. Symptoms of the disease typically begin in the first few months of life and may include difficulty gaining weight, swelling, and excess protein in the urine. Diagnosis is made through genetic testing, and treatment is focused on managing symptoms. The NGS genetic DNA test for NPHS1 gene nephrosis costs INR 20,000.

If you suspect that you or a loved one may have NPHS1 gene nephrosis, it is important to consult with a healthcare professional. DNA Labs India offers a comprehensive range of genetic testing services, including the NGS genetic DNA test for NPHS1 gene nephrosis. Contact us today to learn more.