Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that can affect multiple parts of the body. It is characterized by distinctive facial features, growth delays, intellectual disability, and limb defects. Among the genes associated with this condition, mutations in the SMC3 gene have been identified to cause a specific subtype of the syndrome, known as Cornelia de Lange Syndrome Type 3. Recognizing the symptoms associated with this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for the SMC3 gene mutation, helping in the accurate diagnosis of Cornelia de Lange Syndrome Type 3.
Symptoms of SMC3 Gene Cornelia de Lange Syndrome Type 3
Individuals with Cornelia de Lange Syndrome Type 3 may present a wide range of symptoms, which can vary significantly in severity. Some of the most common symptoms include:
- Distinctive facial features, such as arched eyebrows, long eyelashes, low-set ears, and a small, upturned nose.
- Significant growth delays, both prenatally and postnatally, leading to short stature.
- Intellectual disability or developmental delays.
- Limb abnormalities, which may include missing limbs or parts of limbs, small hands, and malformed fingers and toes.
- Gastroesophageal reflux disease (GERD) and feeding difficulties.
- Behavioral problems, including self-injury, aggression, and autistic-like behaviors.
- Hearing loss and vision problems.
It is important to note that the presence and severity of these symptoms can vary widely among affected individuals. Early diagnosis and intervention are key to managing the condition and improving the quality of life for those affected.
SMC3 Gene Cornelia de Lange Syndrome Type 3 Genetic Test at DNA Labs UAE
DNA Labs UAE is at the forefront of genetic testing, offering a specialized test for the SMC3 gene mutation associated with Cornelia de Lange Syndrome Type 3. This test is crucial for confirming the diagnosis of the syndrome, especially in individuals who present with the characteristic symptoms of the condition. The test involves a simple blood sample from the patient, which is then analyzed for mutations in the SMC3 gene.
The cost of the SMC3 gene Cornelia de Lange Syndrome Type 3 genetic test at DNA Labs UAE is 4400 AED. This cost includes the test itself, as well as a comprehensive report detailing the findings and any relevant genetic counseling that may be necessary based on the results. The genetic test is a vital step in the diagnostic process, providing families and healthcare providers with crucial information for the management and treatment of the condition.
For more information about the SMC3 gene Cornelia de Lange Syndrome Type 3 genetic test, including how to order the test and prepare for it, please visit DNA Labs UAE.
Early diagnosis and genetic testing are essential for managing Cornelia de Lange Syndrome Type 3 effectively. With the right support and interventions, individuals with this condition can lead fulfilling lives. If you suspect that you or a loved one may have symptoms of Cornelia de Lange Syndrome Type 3, consider reaching out to DNA Labs UAE for more information about the genetic test and how it can help in the diagnosis and management of this complex syndrome.
