Koolen-De Vries syndrome, associated with mutations in the KANSL1 gene, is a condition that has garnered significant attention within the medical and scientific communities. DNA Labs UAE stands at the forefront of genetic testing, offering comprehensive services to diagnose this condition. This article will delve into the symptoms associated with KANSL1 gene mutations, the significance of the Koolen Syndrome Genetic Test, and its cost at DNA Labs UAE.
Understanding Koolen-De Vries Syndrome
Koolen-De Vries syndrome, stemming from mutations in the KANSL1 gene, is a genetic disorder characterized by a spectrum of clinical features. These mutations lead to the deletion or mutation of the KANSL1 gene on chromosome 17, which plays a crucial role in the regulation of gene expression necessary for normal brain development and function. This syndrome was first identified in 2006 and has since been a subject of extensive research.
Symptoms of KANSL1 Gene Koolen Syndrome
Individuals with Koolen-De Vries syndrome exhibit a wide range of symptoms, which can vary significantly in their severity. However, some common clinical features have been identified:
- Developmental Delays: Most children with this syndrome experience moderate to severe developmental delays, particularly in speech and motor skills.
- Intellectual Disability: Mild to moderate intellectual disability is common, affecting learning abilities and cognitive development.
- Distinctive Facial Features: Many individuals have a unique facial appearance, including a broad forehead, high hairline, wide-set eyes, and a prominent nose with a rounded tip.
- Behavioral Characteristics: Autism spectrum disorder symptoms, attention deficit hyperactivity disorder (ADHD), and other behavioral issues are frequently observed.
- Other Physical Health Issues: These may include heart defects, seizures, kidney problems, and hearing loss.
Early diagnosis and intervention are crucial for managing the symptoms of Koolen-De Vries syndrome and improving the quality of life for those affected.
KANSL1 Gene Koolen Syndrome Genetic Test at DNA Labs UAE
DNA Labs UAE offers a comprehensive genetic test for the KANSL1 gene to diagnose Koolen-De Vries syndrome. This test is vital for confirming the diagnosis, especially in individuals who exhibit the characteristic symptoms of the syndrome. By analyzing the KANSL1 gene, our experts can identify mutations that may lead to the condition, providing crucial information for families and healthcare providers.
Test Cost
The cost of the KANSL1 Gene Koolen Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the full spectrum of services, from sample collection to detailed genetic analysis and personalized report generation. Our team of genetic counselors is also available to discuss the results and implications for the individual and their family.
Why Choose DNA Labs UAE?
At DNA Labs UAE, we are committed to providing accurate, timely, and confidential genetic testing services. Our state-of-the-art laboratory is equipped with the latest technology, and our team comprises experienced geneticists and counselors. We understand the emotional and medical significance of genetic testing, which is why we strive to offer support and guidance throughout the testing process.
For more information about the KANSL1 Gene Koolen Syndrome Genetic Test and other services we offer, please visit our website at https://dnalabsuae.com/tests/kansl1-gene-koolen-syndrome-genetic-test/.
Early diagnosis through genetic testing can make a significant difference in the management of Koolen-De Vries syndrome. If you or someone you know is exhibiting symptoms of this condition, consider reaching out to DNA Labs UAE for a consultation. Together, we can take the first step towards understanding and managing this genetic disorder.
