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 NGS Genetic DNA Test gene CRB2

Detail Description

CRB2 Gene Ventriculomegaly with Cystic Kidney Disease NGS Genetic DNA Test

Ventriculomegaly with cystic kidney disease is a rare genetic disorder that affects both the brain and kidneys. It is caused by mutations in the CRB2 gene, which provides instructions for making a protein that is necessary for the normal development of these organs. If left untreated, this condition can lead to severe complications and even death.

Symptoms

The symptoms of ventriculomegaly with cystic kidney disease can vary depending on the severity of the condition. Some common symptoms include:

• Enlarged ventricles in the brain
• Cysts in the kidneys
• High blood pressure
• Proteinuria (excessive protein in the urine)
• Impaired kidney function
• Delayed development

Diagnosis

Diagnosing ventriculomegaly with cystic kidney disease can be challenging due to its rarity and the variability of symptoms. However, genetic testing can help confirm the diagnosis and identify the specific mutation in the CRB2 gene.

NGS (Next Generation Sequencing) genetic DNA testing is the most accurate and efficient way to diagnose this condition. It involves sequencing the entire coding region of the CRB2 gene to identify any mutations or variants that may be causing the disease.

Cost

The cost of NGS genetic DNA testing for ventriculomegaly with cystic kidney disease caused by CRB2 gene mutations is INR 20,000 in India. This cost may vary depending on the specific testing facility and any additional services that may be required.

Conclusion

Ventriculomegaly with cystic kidney disease caused by CRB2 gene mutations is a rare genetic disorder that can have severe consequences if left untreated. Early diagnosis through NGS genetic DNA testing can help identify the specific mutation and guide treatment decisions. If you or a loved one are experiencing symptoms of this condition, it is important to speak with a healthcare provider and consider genetic testing.

At DNA Labs India, we offer reliable and accurate NGS genetic DNA testing services for ventriculomegaly with cystic kidney disease caused by CRB2 gene mutations. Contact us today to learn more or schedule a consultation.