Short Description

NGS genetic DNA test detecets for variant and mutation detection in DGKE gene for Nephrotic syndrome type 7

PreTest Information

Clinical History of Patient who is going for DGKE Gene Nephrotic syndrome type 7 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DGKE Gene Nephrotic syndrome type 7 NGS Genetic DNA Test gene DGKE

Detail Description

Understanding DGKE Gene Nephrotic Syndrome Type 7 NGS Genetic DNA Test

Nephrotic Syndrome is a rare genetic disorder that affects the kidneys. It is characterized by proteinuria, hypoalbuminemia, and edema. The disease is caused by mutations in various genes, and one such gene is DGKE (diacylglycerol kinase-epsilon).

DGKE is a gene that is responsible for the production of an enzyme that plays a crucial role in the filtration process of the kidneys. Mutations in the DGKE gene lead to the production of a faulty enzyme, which results in the accumulation of protein in the urine, leading to proteinuria and other symptoms of Nephrotic Syndrome.

Symptoms of Nephrotic Syndrome Type 7

The symptoms of Nephrotic Syndrome Type 7 can vary from person to person. Some common symptoms include:

• Swelling in the legs, ankles, and feet
• Fatigue
• Weight gain
• Loss of appetite
• Foamy urine
• High blood pressure
• Increased susceptibility to infections

Diagnosis of Nephrotic Syndrome Type 7

Nephrotic Syndrome Type 7 is diagnosed through a combination of clinical examination, blood tests, and a genetic test. The clinical examination includes a physical examination, evaluation of medical history, and a urine test to check for proteinuria.

A blood test is performed to evaluate the levels of albumin and creatinine in the blood. The genetic test is done to detect mutations in the DGKE gene that cause Nephrotic Syndrome Type 7. The genetic test is done through Next-Generation Sequencing (NGS) technology, which provides accurate and reliable results.

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA Test for Nephrotic Syndrome Type 7 varies depending on the laboratory and the location. In India, the cost of the test is around INR 20,000.

Conclusion

Nephrotic Syndrome Type 7 is a rare genetic disorder caused by mutations in the DGKE gene. The disease can cause severe symptoms, including proteinuria, edema, and high blood pressure. The diagnosis of the disease is done through a combination of clinical examination, blood tests, and a genetic test using NGS technology. If you or your loved one is experiencing symptoms of Nephrotic Syndrome, it is essential to consult a healthcare professional and get the necessary tests done to detect the disease at an early stage.

At DNA Labs India, we offer accurate and reliable genetic testing services for various genetic disorders, including Nephrotic Syndrome Type 7. Our NGS Genetic DNA Test provides quick and accurate results at an affordable price. Contact us today to know more about our services.