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COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic DNA Test Cost 20000 Rs
COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic DNA Test Details
Understanding COL4A4 Gene and Alport Syndrome: Symptoms, Diagnosis, and Cost of Autosomal Recessive NGS Genetic DNA Test in India
Alport Syndrome is a genetic disorder that affects the kidneys, ears, and eyes. The condition is caused by mutations in genes that encode for type IV collagen, which is an essential component of basement membranes in various tissues. One of the genes associated with Alport Syndrome is the COL4A4 gene.
What is COL4A4 Gene?
The COL4A4 gene is located on chromosome 2 and provides instructions for producing a protein that is a part of type IV collagen. This protein is essential for the formation and maintenance of basement membranes in the kidneys, eyes, and ears. Mutations in this gene can result in the production of an abnormal protein or no protein at all, leading to basement membrane defects and the development of Alport Syndrome.
What is Alport Syndrome?
Alport Syndrome is a rare genetic disorder that affects the kidneys, ears, and eyes. It is caused by mutations in genes that encode for type IV collagen, a protein that is an essential component of basement membranes in various tissues. The condition is characterized by progressive kidney damage, hearing loss, and eye abnormalities.
Symptoms of Alport Syndrome
The symptoms of Alport Syndrome can vary depending on the severity of the condition. Some common symptoms include:
- Progressive hearing loss, which may start in childhood
- Blood in the urine, which may be visible or detected through a urine test
- Protein in the urine
- Swelling in the legs and ankles
- High blood pressure
- Eye abnormalities, such as cataracts or retinal abnormalities
Diagnosis of Alport Syndrome
Alport Syndrome is diagnosed through a combination of clinical evaluation, family history, and genetic testing. A doctor may perform a physical exam, blood and urine tests, and imaging tests to assess kidney function and identify any abnormalities. Genetic testing can help confirm a diagnosis by identifying mutations in genes associated with Alport Syndrome, such as the COL4A4 gene.
Cost of Autosomal Recessive NGS Genetic DNA Test in India
The cost of Autosomal Recessive NGS Genetic DNA Test in India can vary depending on the laboratory and location. On average, the cost of the test is around INR 20,000. DNA Labs India is one of the leading laboratories in India that provides genetic testing services, including Autosomal Recessive NGS Genetic DNA Test. The laboratory is equipped with state-of-the-art technology and experienced professionals who ensure accurate and timely results.
Conclusion
Alport Syndrome is a rare genetic disorder that affects the kidneys, ears, and eyes. The condition is caused by mutations in genes that encode for type IV collagen, including the COL4A4 gene. The symptoms of Alport Syndrome can vary depending on the severity of the condition and may include progressive hearing loss, blood in the urine, and eye abnormalities. Genetic testing, such as Autosomal Recessive NGS Genetic DNA Test, can help diagnose Alport Syndrome and provide valuable information for treatment and management of the condition. DNA Labs India is one of the leading laboratories in India that provides genetic testing services, including Autosomal Recessive NGS Genetic DNA Test, at an affordable cost.
If you suspect that you or someone in your family may have Alport Syndrome, it is essential to consult a doctor and undergo genetic testing to confirm the diagnosis and receive appropriate treatment.
