Adams-Oliver syndrome is a rare genetic condition that affects the development of the skin, skull, and limbs. Type 2 of this syndrome, specifically, is linked to mutations in the DOCK6 gene. Understanding the symptoms and the importance of genetic testing can be pivotal for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for Adams-Oliver Syndrome Type 2, which is crucial for families seeking answers about this rare condition.
Understanding Adams-Oliver Syndrome Type 2
Adams-Oliver Syndrome Type 2 is caused by mutations in the DOCK6 gene. This gene plays a critical role in the development of various parts of the body, including the skin, heart, and limbs. The mutations lead to a range of symptoms that can vary significantly in severity among affected individuals.
Symptoms of Adams-Oliver Syndrome Type 2
The symptoms of Adams-Oliver Syndrome Type 2 can be diverse, affecting multiple systems in the body. Some of the most common symptoms include:
- Scalp defects: Missing patches of skin on the scalp, which may appear at birth. These areas can vary in size and may be covered with a thin membrane.
- Limb abnormalities: This can range from small, missing, or webbed fingers and toes to more severe limb reductions.
- Cardiac anomalies: Heart defects are present in some individuals with Adams-Oliver Syndrome Type 2. These can include structural abnormalities that affect the heart’s function.
- Cutis marmorata: A marbled or mottled appearance of the skin caused by abnormal blood vessels. This is not unique to Adams-Oliver Syndrome but is commonly observed in affected individuals.
- Growth delays: Some children with this syndrome may experience growth delays or a failure to thrive in infancy.
It’s important to note that the severity and combination of these symptoms can vary widely among individuals with the syndrome. Early diagnosis through genetic testing is key to managing the condition effectively.
DOCK6 Gene Adams-Oliver Syndrome Type 2 Genetic Test
At DNA Labs UAE, we offer a specialized genetic test for Adams-Oliver Syndrome Type 2, targeting mutations in the DOCK6 gene. This test is crucial for families who have observed symptoms of the syndrome in their children or who have a family history of the condition. Genetic testing can provide definitive answers and guide treatment and management decisions.
The test cost is set at 4400 AED, reflecting the comprehensive nature of the analysis. While the cost may seem significant, the value of the information gained cannot be understated. A positive test can lead to early interventions that can significantly improve quality of life and manage symptoms more effectively.
For more information on the DOCK6 Gene Adams-Oliver Syndrome Type 2 Genetic Test and to schedule your test, please visit DNA Labs UAE.
Conclusion
Adams-Oliver Syndrome Type 2 is a rare but impactful genetic condition that can affect multiple aspects of a child’s development. Understanding the symptoms and pursuing genetic testing can make a significant difference in the management of the condition. DNA Labs UAE is committed to providing accurate and comprehensive genetic testing services, including the DOCK6 Gene Adams-Oliver Syndrome Type 2 Genetic Test, to help families navigate the challenges of this syndrome.
