Branchiootorenal (BOR) syndrome, also known as Branchiootic syndrome type 1, is a genetic disorder that affects the development of tissues in the neck and causes malformations of the ears and kidneys. This condition is attributed to mutations in the EYA1 gene, which plays a crucial role in the development of these organs. Understanding the symptoms and opting for a genetic test can be essential for early diagnosis and management of the syndrome. DNA Labs UAE offers a comprehensive EYA1 Gene Branchiootic Syndrome Type 1 Genetic Test for those who suspect they or their family members might be affected.
Symptoms of Branchiootic Syndrome Type 1
The symptoms of Branchiootic Syndrome Type 1 can vary significantly from person to person, even within the same family. However, there are some common signs and manifestations of the disorder that individuals should be aware of:
- Branchial Cleft Anomalies: These are malformations that occur in the neck and may include unusual skin tags, sinuses, or even cysts that are present at birth.
- Hearing Loss: Many individuals with Branchiootic Syndrome Type 1 experience some degree of hearing loss, which can be conductive, sensorineural, or a combination of both types.
- Renal Abnormalities: Kidney malformations can range from mild to severe, potentially leading to kidney failure in some cases. These abnormalities can include anything from duplicated ureters to complete renal agenesis (absence of one or both kidneys).
- Preauricular Pits: These are small indentations or pits found near the front of the ear.
- External Ear Anomalies: Individuals may have malformed or abnormally shaped ears, which can contribute to hearing loss.
It is important to note that the presence and severity of symptoms can vary widely, and some individuals may have mild symptoms that go unnoticed without a proper genetic evaluation.
Importance of Genetic Testing
Genetic testing for the EYA1 gene can provide a definitive diagnosis of Branchiootic Syndrome Type 1. This is crucial for the management of the condition, as it allows for early intervention and treatment of symptoms, especially those related to hearing loss and kidney function. Furthermore, a genetic test can offer valuable information for family planning and the assessment of risk for future offspring.
EYA1 Gene Branchiootic Syndrome Type 1 Genetic Test at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test for the diagnosis of Branchiootic Syndrome Type 1 caused by mutations in the EYA1 gene. The test is priced at 4400 AED and is designed to provide accurate and reliable results. By choosing DNA Labs UAE for genetic testing, individuals can expect:
- Comprehensive analysis of the EYA1 gene for mutations associated with Branchiootic Syndrome Type 1.
- Expert interpretation of test results and personalized advice on management and treatment options.
- Confidential handling of all genetic data and test results.
- Support and guidance from a team of experienced genetic counselors and medical professionals.
Early diagnosis and understanding of Branchiootic Syndrome Type 1 can significantly improve the quality of life for those affected. If you or someone you know is experiencing symptoms related to this condition, consider reaching out to DNA Labs UAE for the EYA1 Gene Branchiootic Syndrome Type 1 Genetic Test. With a comprehensive approach to genetic testing and a commitment to excellence, DNA Labs UAE is dedicated to providing the support and information needed to navigate the complexities of genetic conditions.
