Kabuki syndrome is a rare, multi-system disorder characterized by a range of physical and developmental abnormalities. Type 2 Kabuki syndrome, specifically, is associated with mutations in the KDM6A gene. This genetic condition affects many parts of the body, including facial features, growth, skeletal structure, and neurological development. Recognizing the symptoms early can lead to timely intervention and management, improving the quality of life for those affected. DNA Labs UAE offers a comprehensive genetic test for Kabuki Syndrome Type 2, aimed at detecting mutations in the KDM6A gene.
Understanding Kabuki Syndrome Type 2
Kabuki syndrome Type 2, caused by mutations in the KDM6A gene, shares many characteristics with Type 1, which results from mutations in the KMT2D gene. However, Type 2 tends to have a broader spectrum of severity. This condition is inherited in an X-linked dominant pattern, meaning that both males and females can be affected, but males often exhibit more severe symptoms.
Signs and Symptoms of Kabuki Syndrome Type 2
The symptoms of Kabuki Syndrome Type 2 can vary widely among individuals but generally include distinctive facial features, growth delays, skeletal abnormalities, and intellectual disabilities. Some of the most common symptoms are:
- Long palpebral fissures with eversion of the lateral third of the lower eyelids
- Arched and broad eyebrows
- Short nose with a broad tip
- Large, misshapen ears
- Developmental delay and intellectual disability
- Heart defects
- Skeletal abnormalities such as scoliosis and joint laxity
- Growth retardation
- Hearing loss
Importance of Genetic Testing for Kabuki Syndrome Type 2
Genetic testing plays a crucial role in the diagnosis of Kabuki Syndrome Type 2. Identifying the presence of a mutation in the KDM6A gene can confirm the diagnosis, allowing for early intervention and specialized care. This test is particularly important for families with a history of the condition or for individuals exhibiting symptoms consistent with the syndrome.
KDM6A Gene Kabuki Syndrome Type 2 Genetic Test at DNA Labs UAE
DNA Labs UAE offers a comprehensive genetic test for Kabuki Syndrome Type 2, aimed at detecting mutations in the KDM6A gene. The test cost is 4400 AED, which includes a detailed analysis and report. This test is a valuable tool for individuals and families seeking answers and is an important step towards personalized care and management of the condition.
How to Get Tested
Getting tested for Kabuki Syndrome Type 2 at DNA Labs UAE is a straightforward process. Interested individuals can visit the following link for more information and to arrange for testing: KDM6A Gene Kabuki Syndrome Type 2 Genetic Test. The website provides detailed instructions on how to proceed with the test, including sample collection and submission.
Conclusion
Kabuki Syndrome Type 2 is a complex condition that requires early diagnosis and comprehensive care. The KDM6A gene test offered by DNA Labs UAE is an essential tool for individuals and families seeking clarity on their symptoms and guidance on managing the condition. With a cost of 4400 AED, this test is an investment in health and well-being, providing valuable insights into the management and treatment of Kabuki Syndrome Type 2.
