Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL4A5 gene for Alport syndrome, X-Linked

PreTest Information

Clinical History of Patient who is going for COL4A5 Gene Alport syndrome, X-Linked NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL4A5 Gene Alport syndrome, X-Linked NGS Genetic DNA Test gene COL4A5

Detail Description

COL4A5 Gene Alport syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Alport syndrome is a genetic disorder that affects the kidneys, ears, and eyes. It is caused by mutations in the COL4A5 gene, which provides instructions for making a protein called type IV collagen. This protein is an important component of the basement membrane, which is a thin layer of tissue that helps support and protect various organs in the body.

Alport syndrome can be inherited in different ways, depending on the specific mutation involved. X-linked Alport syndrome, which is caused by mutations in the COL4A5 gene on the X chromosome, is the most common form of the disorder. This means that it primarily affects males, who have only one X chromosome, while females can be carriers of the mutated gene.

Symptoms of Alport Syndrome

The symptoms of Alport syndrome can vary widely, even among people with the same genetic mutation. However, some common signs and symptoms include:

• Blood in the urine (hematuria)
• Protein in the urine (proteinuria)
• High blood pressure (hypertension)
• Swelling in the legs and feet (edema)
• Hearing loss or deafness
• Eye abnormalities, such as cataracts or retinopathy

These symptoms can appear at any age, but they often start in childhood or adolescence.

Diagnosis of Alport Syndrome

Alport syndrome can be diagnosed through a combination of medical history, physical examination, and laboratory tests. These tests may include:

• Urine tests to check for hematuria and proteinuria
• Blood tests to check kidney function and genetic mutations
• Hearing and vision tests
• Kidney biopsy to examine the tissue for signs of Alport syndrome

If Alport syndrome is suspected, genetic testing can confirm the diagnosis and identify the specific mutation involved. This can help with predicting the progression of the disease and developing a personalized treatment plan.

NGS Genetic DNA Test Cost in India

NGS (next-generation sequencing) genetic testing is a powerful tool for identifying genetic mutations, including those associated with Alport syndrome. This test can analyze multiple genes at once, providing a comprehensive view of a patient's genetic profile.

The cost of NGS genetic DNA testing for Alport syndrome in India can vary depending on the laboratory and specific tests performed. However, on average, the cost ranges from INR 15,000 to INR 25,000.

Conclusion

Alport syndrome is a complex genetic disorder that can cause a range of symptoms and complications. Early diagnosis and genetic testing can help with predicting the progression of the disease and developing a personalized treatment plan. NGS genetic DNA testing is a powerful tool for identifying the specific genetic mutations involved in Alport syndrome, and the cost of this testing in India is relatively affordable.

If you or a loved one is experiencing symptoms of Alport syndrome, it is important to seek medical attention and consider genetic testing to determine the underlying cause of the disease.