Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL4A1 gene for Porencephaly, familial

PreTest Information

Clinical History of Patient who is going for COL4A1 Gene Porencephaly, familial NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL4A1 Gene Porencephaly, familial NGS Genetic DNA Test gene COL4A1

Detail Description

COL4A1 Gene Porencephaly: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

COL4A1 gene porencephaly is a rare genetic disorder that affects the brain's development, leading to neurological abnormalities and cerebral palsy. It is caused by mutations in the COL4A1 gene, which encodes for collagen, a structural protein in the brain's blood vessels and other tissues.

Symptoms of COL4A1 Gene Porencephaly

The symptoms of COL4A1 gene porencephaly vary depending on the severity of the mutation and the affected individual's age. Some of the common symptoms include:

• Developmental delay
• Seizures
• Cerebral palsy
• Microcephaly
• Intellectual disability
• Visual impairment
• Hearing loss
• Muscle weakness

Diagnosis of COL4A1 Gene Porencephaly

Diagnosis of COL4A1 gene porencephaly involves a thorough evaluation of the patient's symptoms, medical history, and family history. A genetic test is also performed to confirm the presence of the mutation in the COL4A1 gene. The genetic test can be performed using a next-generation sequencing (NGS) technique that analyzes the patient's DNA to detect the mutation.

NGS Genetic DNA Test Cost for COL4A1 Gene Porencephaly in India

The cost of an NGS genetic DNA test for COL4A1 gene porencephaly in India varies depending on the testing facility and the extent of the test. On average, the cost of the test is around INR 20,000. This cost may be covered by insurance, depending on the policy and the insurance provider. It is essential to check with the insurance provider before undergoing the test to know the coverage and the out-of-pocket expenses.

Conclusion

COL4A1 gene porencephaly is a rare genetic disorder that affects the brain's development, leading to neurological abnormalities and cerebral palsy. The symptoms of the disease vary, and diagnosis involves a thorough evaluation of the patient's symptoms, medical history, and family history. A genetic test, such as NGS, can be performed to confirm the presence of the mutation. The cost of the test in India is around INR 20,000, and it is essential to check with the insurance provider before undergoing the test to know the coverage and the out-of-pocket expenses.

At DNA Labs India, we offer NGS genetic DNA testing services for COL4A1 gene porencephaly and other genetic disorders. Our testing services are accurate, reliable, and affordable, helping patients and families get the answers they need to make informed decisions about their health. Contact us today to learn more about our genetic testing services.