Short Description

NGS genetic DNA test detecets for variant and mutation detection in REN gene for Renal tubular dysgenesis

PreTest Information

Clinical History of Patient who is going for REN Gene Renal tubular dysgenesis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with REN Gene Renal tubular dysgenesis NGS Genetic DNA Test gene REN

Detail Description

REN Gene Renal Tubular Dysgenesis NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Renal Tubular Dysgenesis is a rare disorder that affects the development of the kidneys during pregnancy. It is caused by mutations in the REN gene that encodes for an enzyme called Renin. Renin plays a vital role in the regulation of blood pressure, electrolyte balance, and fluid balance in the body. Mutations in the REN gene can lead to a decrease or absence of Renin, resulting in abnormal kidney development.

Symptoms of Renal Tubular Dysgenesis

The symptoms of Renal Tubular Dysgenesis can vary depending on the severity of the disorder. In some cases, the symptoms may be present at birth, while in others, they may appear later in life. Some of the common symptoms of Renal Tubular Dysgenesis include:

• Low birth weight
• Persistent low blood pressure
• Elevated levels of potassium in the blood
• Decreased urine output
• Failure to thrive

Diagnosis of Renal Tubular Dysgenesis

Renal Tubular Dysgenesis can be diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing. Imaging studies such as ultrasound, MRI, and CT scans can be used to assess the structure and function of the kidneys. Genetic testing can be used to identify mutations in the REN gene that may be responsible for the disorder.

NGS Genetic DNA Test for Renal Tubular Dysgenesis

Next-Generation Sequencing (NGS) is a powerful genetic testing technique that can be used to identify mutations in the REN gene. NGS testing can detect mutations in multiple genes simultaneously, making it a highly efficient and cost-effective option for genetic testing. The cost of NGS testing for Renal Tubular Dysgenesis in India is approximately INR 20,000.

Conclusion

Renal Tubular Dysgenesis is a rare disorder that can have serious consequences if left untreated. Early diagnosis and treatment can significantly improve outcomes for affected individuals. NGS genetic testing for Renal Tubular Dysgenesis is a highly effective and efficient option for identifying mutations in the REN gene. The cost of NGS testing in India is affordable, making it accessible to a wider population.

If you suspect that you or your child may have Renal Tubular Dysgenesis, it is important to consult with a genetic counselor or healthcare provider. They can help you determine the most appropriate course of action and provide guidance on genetic testing and treatment options.