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COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic DNA Test Cost 20000 Rs
COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic DNA Test Details
Understanding the COL4A3 Gene and Alport Syndrome: Symptoms, Diagnosis, and Genetic Testing Costs in India
Alport Syndrome is a rare genetic disorder that affects the kidneys, ears, and eyes. It is caused by mutations in the COL4A3 gene, which provides instructions for making a protein that is essential for the formation and maintenance of basement membranes in the body.
Basement membranes are thin, sheet-like structures that separate and support different tissues in the body, including the kidneys, ears, and eyes. In people with Alport Syndrome, mutations in the COL4A3 gene cause the basement membranes in these organs to become weak and prone to damage, leading to progressive kidney disease, hearing loss, and vision problems.
Symptoms of Alport Syndrome
The symptoms of Alport Syndrome can vary depending on the severity of the disease and the age at which it develops. In general, the most common symptoms of Alport Syndrome include:
- Blood in the urine (hematuria)
- Protein in the urine (proteinuria)
- High blood pressure (hypertension)
- Swelling in the legs and ankles (edema)
- Hearing loss
- Vision problems, such as cataracts or glaucoma
Diagnosis of Alport Syndrome
Diagnosing Alport Syndrome can be challenging because the symptoms are often subtle and can be mistaken for other conditions. A diagnosis of Alport Syndrome is usually based on a combination of clinical symptoms, family history, and genetic testing.
The first step in diagnosing Alport Syndrome is to perform a urine test to check for the presence of blood and protein. If these are found, a kidney biopsy may be performed to examine the basement membranes for signs of damage. Genetic testing may also be done to look for mutations in the COL4A3 gene.
Genetic Testing for Alport Syndrome
Genetic testing is an important tool for diagnosing Alport Syndrome and identifying carriers of the disease. There are several types of genetic tests that can be used to detect mutations in the COL4A3 gene, including:
- Sanger sequencing
- Next-generation sequencing (NGS)
- Multiplex ligation-dependent probe amplification (MLPA)
Next-generation sequencing (NGS) is a powerful tool that allows for the rapid and accurate sequencing of the entire COL4A3 gene. NGS can detect all types of mutations, including small deletions, insertions, and point mutations. NGS testing for Alport Syndrome typically costs around INR 20,000 in India.
Conclusion
Alport Syndrome is a rare genetic disorder that can cause kidney disease, hearing loss, and vision problems. It is caused by mutations in the COL4A3 gene, which can be detected through genetic testing. NGS testing is a powerful tool that can detect all types of mutations in the COL4A3 gene and is available in India for around INR 20,000. Early diagnosis and genetic testing are important for managing the symptoms of Alport Syndrome and identifying carriers of the disease.
