Short Description

NGS genetic DNA test detecets for variant and mutation detection in CRPPA gene for Walker-Warburg syndrome

PreTest Information

Clinical History of Patient who is going for CRPPA Gene Walker-Warburg syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CRPPA Gene Walker-Warburg syndrome

Detail Description

CRPPA Gene Walker-Warburg Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Walker-Warburg syndrome (WWS) is a rare genetic disorder that affects the development of the brain, eyes, and muscles. It is caused by mutations in several genes, including the CRPPA gene. CRPPA gene mutations are inherited in an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene for their child to be affected.

NGS (next-generation sequencing) genetic DNA testing is a powerful tool for diagnosing WWS and other genetic disorders. NGS can analyze multiple genes at once, making it faster and more cost-effective than traditional genetic testing methods.

Symptoms of Walker-Warburg Syndrome

The symptoms of WWS can vary widely depending on the severity of the condition. Some common symptoms include:

• Brain malformations
• Seizures
• Developmental delay
• Abnormal eye movements
• Muscle weakness and hypotonia
• Cleft lip and palate
• Heart defects

These symptoms typically appear in the first few months of life and may worsen over time.

Diagnosing Walker-Warburg Syndrome

Diagnosing WWS can be challenging due to its rarity and variable presentation. NGS genetic DNA testing is a powerful tool for diagnosing WWS and other genetic disorders. The test can analyze multiple genes at once, making it faster and more cost-effective than traditional genetic testing methods.

NGS testing can be performed on a blood or saliva sample. The sample is sent to a laboratory for analysis, and the results are usually available within a few weeks. If a mutation in the CRPPA gene is identified, the diagnosis of WWS can be confirmed.

CRPPA Gene Walker-Warburg Syndrome NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for WWS and other genetic disorders can vary depending on the laboratory and the specific test ordered. In India, the cost of CRPPA gene Walker-Warburg Syndrome NGS genetic DNA testing is typically around INR 20,000.

This cost may be covered by health insurance in some cases, but it is important to check with your insurance provider before undergoing testing.

Conclusion

Walker-Warburg syndrome is a rare genetic disorder that can have serious consequences for affected individuals and their families. NGS genetic DNA testing is a powerful tool for diagnosing WWS and other genetic disorders. The cost of CRPPA gene Walker-Warburg Syndrome NGS genetic DNA testing in India is typically around INR 20,000. If you suspect that you or a loved one may have WWS, it is important to speak with a healthcare professional about testing options.