Symptoms and Testing information for SIX5 Gene Branchiootorenal Syndrome Type 2 Genetic Test

Symptoms and Testing information for SIX5 Gene Branchiootorenal Syndrome Type 2 Genetic Test

DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services to help individuals understand their genetic makeup and potential health risks. Among the numerous tests provided, the SIX5 Gene Branchiootorenal Syndrome Type 2 Genetic Test stands out for its importance in diagnosing a rare but significant condition. This article aims to shed light on the symptoms associated with Branchiootorenal Syndrome Type 2, the significance of the genetic test, and its cost.

Symptoms of Branchiootorenal Syndrome Type 2

Branchiootorenal Syndrome Type 2, also known as BOR Syndrome, is a genetic disorder that primarily affects the development of tissues in the neck and causes malformations of the ears and kidneys. Individuals with this condition may exhibit a range of symptoms, which can vary significantly in severity. Some of the most common symptoms include:

  • Branchial cysts or fistulas: These are abnormal tissue formations that can appear on the neck, often noticeable at birth or early childhood.
  • Hearing loss: This can range from mild to profound and is often sensorineural, conductive, or mixed in nature.
  • Preauricular pits: Small indentations near the front of the ear.
  • Renal anomalies: These can include kidney malformations, such as duplicated or horseshoe kidneys, and in some cases, renal failure.
  • External ear malformations: Individuals may have malformed outer ears, which can affect hearing.
  • Facial asymmetry: Some individuals may exhibit mild facial asymmetry due to the malformations.

It is important to note that the presence and severity of these symptoms can vary widely among individuals with Branchiootorenal Syndrome Type 2. Early diagnosis and management are crucial for improving quality of life and addressing potential complications.

Importance of the SIX5 Gene Branchiootorenal Syndrome Type 2 Genetic Test

The SIX5 Gene Branchiootorenal Syndrome Type 2 Genetic Test is a critical tool in the diagnosis and management of BOR Syndrome. This test specifically looks for mutations in the SIX5 gene, which have been linked to the condition. Identifying a mutation in this gene can confirm a diagnosis of Branchiootorenal Syndrome Type 2 and allow for targeted interventions and management strategies. Furthermore, this test can provide essential information for family planning, as BOR Syndrome is inherited in an autosomal dominant pattern, meaning that there is a 50% chance of passing the condition to offspring.

Test Cost

The cost of the SIX5 Gene Branchiootorenal Syndrome Type 2 Genetic Test at DNA Labs UAE is 4400 AED. This price includes the full genetic analysis, a comprehensive report, and a consultation with a genetic counselor who can help interpret the results and provide guidance on next steps. While the cost may seem significant, the value of the information gained from this test cannot be overstated, especially for families affected by Branchiootorenal Syndrome Type 2.

Conclusion

Branchiootorenal Syndrome Type 2 is a complex genetic condition that requires careful management and intervention. The SIX5 Gene Branchiootorenal Syndrome Type 2 Genetic Test offered by DNA Labs UAE is a vital resource for individuals and families seeking answers about this condition. With a detailed understanding of the symptoms and the availability of a precise genetic test, affected individuals can take significant steps towards managing their health and planning for the future.

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