Short Description

NGS genetic DNA test detecets for variant and mutation detection in CRB2 gene for Ventriculomegaly with cystic kidney disease

PreTest Information

Clinical History of Patient who is going for CRB2 Gene Ventriculomegaly with cystic kidney disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CRB2 Gene Ventriculomegaly with cystic kidney disease

Detail Description

CRB2 Gene Ventriculomegaly with Cystic Kidney Disease NGS Genetic DNA Test

CRB2 gene ventriculomegaly with cystic kidney disease is a rare genetic disorder that affects the brain and kidneys. It is caused by a mutation in the CRB2 gene, which is responsible for the proper development and function of these organs. Individuals with this condition may experience symptoms such as enlarged ventricles in the brain, cystic kidney disease, and developmental delays.

Symptoms

The symptoms of CRB2 gene ventriculomegaly with cystic kidney disease can vary from person to person. Some of the most common symptoms include:

• Enlarged ventricles in the brain
• Cystic kidney disease
• Developmental delays
• Seizures
• Intellectual disability
• Problems with vision
• Abnormal muscle tone
• Abnormalities in the structure of the brain

Diagnosis

Diagnosing CRB2 gene ventriculomegaly with cystic kidney disease can be challenging as it is a rare disorder. Doctors may perform a variety of tests to confirm the diagnosis, including:

• Physical exam and medical history
• Neurological exam
• MRI or CT scan of the brain
• Kidney function tests
• Genetic testing

NGS Genetic DNA Test

NGS genetic DNA testing is a powerful tool that can help diagnose CRB2 gene ventriculomegaly with cystic kidney disease. This type of testing can identify mutations in the CRB2 gene, which can confirm the diagnosis and help doctors develop a treatment plan.

Cost of NGS Genetic DNA Test

The cost of an NGS genetic DNA test for CRB2 gene ventriculomegaly with cystic kidney disease can vary depending on the provider and location. In India, the cost of this test is typically around INR 20,000.

Treatment

Currently, there is no cure for CRB2 gene ventriculomegaly with cystic kidney disease. Treatment options are focused on managing symptoms and providing supportive care. This may include medications, physical therapy, occupational therapy, and speech therapy.

Conclusion

CRB2 gene ventriculomegaly with cystic kidney disease is a rare genetic disorder that can cause significant challenges for individuals and their families. If you or a loved one is experiencing symptoms of this condition, it is important to seek medical attention and consider genetic testing. With early diagnosis and proper treatment, individuals with this condition can live fulfilling lives.

At DNA Labs India, we offer NGS genetic DNA testing for CRB2 gene ventriculomegaly with cystic kidney disease at an affordable cost of INR 20,000. Contact us today to learn more about our testing services.