Alport Syndrome is a genetic disorder that primarily affects the kidney, leading to progressive loss of kidney function, and can also impact the eyes and the inner ear. The condition is caused by mutations in the genes that produce type IV collagen, a crucial component for the normal functioning of the glomeruli in the kidneys. Among these genes, mutations in the COL4A5 gene lead to the X-linked form of Alport Syndrome, which is the most common inheritance pattern. Understanding the symptoms and early detection through genetic testing can be crucial for managing the condition. DNA Labs UAE offers a comprehensive genetic test for the X-linked Alport Syndrome, specifically targeting the COL4A5 gene mutation.
Symptoms of COL4A5 Gene Alport Syndrome
Alport Syndrome symptoms can vary widely among individuals, even within the same family. The condition often manifests in childhood or early adolescence, but early signs can sometimes be overlooked. Key symptoms associated with COL4A5 Gene Alport Syndrome include:
- Hematuria: Blood in the urine is often the first sign, resulting from the kidneys’ inability to filter blood properly.
- Proteinuria: Presence of protein in the urine, indicating kidney damage.
- High blood pressure: Can occur as a result of reduced kidney function.
- Progressive kidney failure: The decline in kidney function can lead to chronic kidney disease and eventually end-stage renal disease, necessitating dialysis or a kidney transplant.
- Hearing loss: Sensorineural hearing loss is common and typically develops by late childhood or early adolescence.
- Eye abnormalities: Changes in the eye can include anterior lenticonus, which is a bulging of the lens of the eye, and maculopathy, which affects central vision.
It’s important to note that the severity and progression of these symptoms can vary. Early diagnosis and intervention are crucial in managing the disease and improving the quality of life for those affected.
X-Linked Genetic Test for COL4A5 Gene Alport Syndrome
DNA Labs UAE provides a specialized genetic test for diagnosing X-linked Alport Syndrome caused by mutations in the COL4A5 gene. This test is essential for confirming the diagnosis, understanding the disease’s progression, and making informed decisions about treatment options. The test involves analyzing the DNA to identify mutations in the COL4A5 gene that are responsible for the condition. It is a crucial step for affected individuals and their families in managing and planning for the disease’s impact.
Test Cost
The cost of the COL4A5 Gene Alport Syndrome X-Linked Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, it is important to consider the value of early diagnosis and the potential to tailor treatments to manage symptoms effectively, slow the progression of kidney disease, and maintain a higher quality of life.
Why Choose DNA Labs UAE?
DNA Labs UAE is committed to providing accurate, reliable, and confidential genetic testing services. With a state-of-the-art laboratory equipped with the latest technology and a team of experienced geneticists and healthcare professionals, DNA Labs UAE ensures that individuals receive the highest standard of care. The lab offers a wide range of genetic tests, including the COL4A5 Gene Alport Syndrome X-Linked Genetic Test, designed to meet the specific needs of individuals and families affected by genetic conditions.
For more information on the COL4A5 Gene Alport Syndrome X-Linked Genetic Test and to schedule your test, please visit DNA Labs UAE.
