The HOXA13 gene plays a crucial role in the development of the limbs, gastrointestinal tract, and the urinary system. Mutations in this gene can lead to Guttmacher Syndrome, a rare genetic disorder characterized by a spectrum of abnormalities affecting these systems. Recognizing the symptoms of Guttmacher Syndrome is essential for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for the HOXA13 gene to aid in the diagnosis of Guttmacher Syndrome.
Symptoms of Guttmacher Syndrome
Guttmacher Syndrome manifests through a variety of symptoms, primarily affecting the limbs, gastrointestinal system, and the genitourinary tract. The symptoms can vary significantly from one individual to another, but generally include:
- Limb Abnormalities: One of the hallmark symptoms of Guttmacher Syndrome is the presence of limb malformations. These can range from minor anomalies, such as partial syndactyly (webbing between the fingers or toes), to more severe malformations like oligodactyly (missing digits).
- Gastrointestinal Issues: Many individuals with Guttmacher Syndrome experience gastrointestinal problems. These can include congenital anomalies such as imperforate anus, anteriorly placed anus, or intestinal malrotation.
- Genitourinary Abnormalities: Abnormalities in the development of the urinary and genital systems are common in Guttmacher Syndrome. This can include hypospadias (where the opening of the urethra is not at the tip of the penis), cryptorchidism (undescended testicles), and in females, abnormalities in the uterus or ovaries.
- Other Symptoms: In addition to the primary symptoms mentioned above, individuals with Guttmacher Syndrome may also experience other issues such as heart defects, growth delays, and developmental delays.
HOXA13 Gene Guttmacher Syndrome Genetic Test
Given the varied nature of the symptoms, diagnosing Guttmacher Syndrome can be challenging. However, a genetic test targeting the HOXA13 gene can provide a definitive diagnosis. DNA Labs UAE is at the forefront of providing this essential genetic testing service. The test involves analyzing the DNA of the individual for mutations in the HOXA13 gene that are known to cause Guttmacher Syndrome.
The process is straightforward and requires only a sample of blood or saliva. Once the sample is collected, it is sent to our state-of-the-art laboratory where our team of genetic experts carries out the analysis. The results of this test not only aid in the diagnosis but also help in guiding the management and treatment of the syndrome, offering families the information they need to make informed decisions about their health care.
Test Cost
The cost of the HOXA13 Gene Guttmacher Syndrome Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, it is a valuable investment in accurately diagnosing Guttmacher Syndrome, which can have profound implications for the affected individual’s health and quality of life.
Conclusion
Guttmacher Syndrome is a complex condition with a wide range of symptoms. Early and accurate diagnosis through genetic testing can make a significant difference in the management of the syndrome. DNA Labs UAE is committed to providing this vital service, offering hope and answers to families affected by Guttmacher Syndrome. For more information or to schedule a test, visit our website at https://dnalabsuae.com/tests/hoxa13-gene-guttmacher-syndrome-genetic-test-2/.
