Understanding the genetic underpinnings of various conditions is crucial in the realm of medical science, particularly when it comes to rare syndromes. One such condition is the MYO18B Gene Klippel-Feil Syndrome Type 4, an autosomal dominant disorder characterized by a unique combination of symptoms, including myopathy and facial dysmorphism. DNA Labs UAE is at the forefront of offering comprehensive genetic testing for this condition, ensuring that patients and their families have access to crucial information that can guide diagnosis and management. The cost of the genetic test is set at 4400 AED.
What is MYO18B Gene Klippel-Feil Syndrome Type 4?
MYO18B Gene Klippel-Feil Syndrome Type 4 is a genetic disorder that is passed down in an autosomal dominant pattern. It is associated with mutations in the MYO18B gene, which plays a critical role in muscle development and function. This syndrome is characterized by the fusion of at least two spinal vertebrae, leading to limited neck mobility, myopathy, which refers to muscle weakness, and distinct facial dysmorphisms, or facial features that deviate from the typical appearance.
Symptoms of MYO18B Gene Klippel-Feil Syndrome Type 4
The symptoms of this syndrome can vary widely among affected individuals but typically include:
- Spinal abnormalities: The hallmark of Klippel-Feil syndrome is the congenital fusion of two or more cervical vertebrae, which can result in a short neck, limited range of motion, and in some cases, pain.
- Myopathy: Muscle weakness is a common feature, which can affect both skeletal muscles and those involved in breathing.
- Facial Dysmorphism: Individuals may present with distinct facial features such as a broad forehead, low-set ears, and a short neck.
- Other associated anomalies: Some patients may also exhibit hearing loss, kidney abnormalities, and heart defects.
Early diagnosis and management are vital for improving the quality of life for individuals with this syndrome.
Genetic Testing for MYO18B Gene Klippel-Feil Syndrome Type 4
Genetic testing plays a crucial role in the diagnosis of MYO18B Gene Klippel-Feil Syndrome Type 4. DNA Labs UAE offers a comprehensive genetic test that screens for mutations in the MYO18B gene. This test is essential not only for confirming the diagnosis but also for informing treatment strategies, understanding the risk of recurrence in families, and providing genetic counseling to affected families.
Test Cost
The cost of the MYO18B Gene Klippel-Feil Syndrome Type 4 Autosomal Dominant with Myopathy and Facial Dysmorphism Genetic Test at DNA Labs UAE is 4400 AED. This cost is reflective of the extensive analysis and accurate identification of mutations within the MYO18B gene.
Conclusion
Understanding the symptoms and genetic basis of MYO18B Gene Klippel-Feil Syndrome Type 4 is crucial for affected individuals and their families. With advancements in genetic testing, such as the services offered by DNA Labs UAE, it is now possible to obtain accurate diagnoses, guide treatment plans, and provide valuable genetic counseling. For more information and to book a test, please visit DNA Labs UAE.
