Understanding the complexities of genetic disorders is crucial in the realm of medical science. Among these, the SLC35C1 gene glycosylation disorder, also known as Congenital Disorder of Glycosylation Type 2C (CDG2C), has emerged as a condition warranting closer examination due to its impact on individuals’ health. DNA Labs UAE stands at the forefront of genetic testing, offering comprehensive analysis and support for those potentially affected by this disorder. In this article, we delve into the symptoms associated with SLC35C1 gene glycosylation disorder Type 2C and discuss the genetic test available at DNA Labs UAE, including its cost.
Symptoms of SLC35C1 Gene Glycosylation Disorder Type 2C
The SLC35C1 gene glycosylation disorder Type 2C is a rare condition that affects various bodily functions. This disorder arises from mutations in the SLC35C1 gene, which plays a pivotal role in the glycosylation process—a process critical for proper protein folding and function. The symptoms associated with this disorder are diverse and can affect individuals differently. Key symptoms include:
- Immunodeficiency: Individuals may experience recurrent infections due to compromised immune system functionality.
- Psychomotor retardation: Affected persons might show delayed cognitive and motor skill development, impacting their ability to perform everyday tasks.
- Bleeding diathesis: This refers to an increased tendency to bleed or bruise, stemming from the body’s inability to form blood clots properly.
- Failure to thrive: Infants with this disorder may experience difficulty growing and gaining weight at the expected rate for their age.
- Skeletal abnormalities: These can range from minor bone deformities to more significant skeletal issues, affecting mobility and posture.
- Eye abnormalities: Vision problems are common, including issues with eye movement and development.
It’s important to note that the manifestation and severity of these symptoms can vary widely among individuals. Early detection and intervention are crucial in managing the disorder’s impact on the affected person’s quality of life.
SLC35C1 Gene Glycosylation Disorder Type 2C Genetic Test at DNA Labs UAE
DNA Labs UAE is committed to providing accurate and comprehensive genetic testing services. The SLC35C1 gene glycosylation disorder Type 2C genetic test is one such service that aims to identify mutations in the SLC35C1 gene, offering crucial information for diagnosis and management of the disorder. This test is particularly recommended for individuals presenting symptoms associated with the disorder or those with a family history of genetic conditions.
The test is conducted with a simple blood sample, and the process is straightforward and minimally invasive. Upon collection, the sample is meticulously analyzed in our state-of-the-art laboratories, employing advanced genetic sequencing techniques to detect any mutations in the SLC35C1 gene. The results of this test can provide valuable insights into the individual’s condition, facilitating personalized treatment plans and interventions.
The cost of the SLC35C1 gene glycosylation disorder Type 2C genetic test at DNA Labs UAE is set at 4400 AED. While the cost may seem significant, it is a worthwhile investment in understanding and managing a condition that can profoundly affect one’s health and well-being. For more information and to schedule a test, please visit our website at https://dnalabsuae.com/tests/slc35c1-gene-glycosylation-disorder-type-2c-genetic-test-2/.
In conclusion, the SLC35C1 gene glycosylation disorder Type 2C is a complex condition that requires thorough understanding and management. DNA Labs UAE’s genetic test offers a crucial step towards diagnosing and addressing this disorder, providing affected individuals and their families with the knowledge and support necessary to navigate the challenges it presents. With advancements in genetic testing, there is hope for improved outcomes and quality of life for those impacted by this condition.
