Symptoms of SLC35C1 Gene Glycosylation Disorder Type 2C Genetic Test
Glycosylation is a critical biological process where sugars are attached to proteins and lipids, altering their function and stability. One rare disorder associated with this process is the SLC35C1 gene glycosylation disorder, also known as Congenital Disorder of Glycosylation Type 2C (CDG2C). This condition results from mutations in the SLC35C1 gene, affecting the normal function of glycoproteins and glycolipids. Understanding the symptoms associated with this genetic disorder is crucial for early diagnosis and management.
Common Symptoms
Individuals with the SLC35C1 gene glycosylation disorder type 2C may exhibit a range of symptoms, varying from mild to severe. These symptoms are primarily due to the improper formation or function of glycoproteins and glycolipids in the body. Key symptoms include:
- Immune System Deficiencies: Recurrent infections due to compromised immune response.
- Bleeding Disorders: Issues with blood clotting leading to easy bruising and abnormal bleeding.
- Psychomotor Retardation: Delayed development of motor skills and cognitive functions.
- Eye Abnormalities: Problems with eye movement and vision, including strabismus (crossed eyes).
- Failure to Thrive: Difficulty gaining weight and growing at the expected rate during infancy.
Diagnosing SLC35C1 Gene Glycosylation Disorder Type 2C
Diagnosing this genetic disorder involves a comprehensive approach, including clinical evaluation, biochemical tests, and genetic testing. The definitive diagnosis is achieved through genetic testing, identifying mutations in the SLC35C1 gene. This is where the SLC35C1 Gene Glycosylation Disorder Type 2C Genetic Test comes into play. Conducted in specialized laboratories, this test provides conclusive evidence of the disorder, enabling healthcare providers to devise an appropriate management plan.
SLC35C1 Gene Glycosylation Disorder Type 2C Genetic Test Cost
The cost of the SLC35C1 Gene Glycosylation Disorder Type 2C Genetic Test is 4400 AED. This investment covers the expenses of the genetic analysis, providing a detailed report that can guide further treatment and management strategies. It’s important to note that the cost may be covered by health insurance policies, depending on the provider and the specific health insurance plan.
Where to Get Tested
For those seeking the SLC35C1 Gene Glycosylation Disorder Type 2C Genetic Test, DNA Labs UAE offers this specialized service. With a team of expert geneticists and state-of-the-art technology, DNA Labs UAE provides accurate and reliable genetic testing services, ensuring that patients receive the highest standard of care.
Conclusion
SLC35C1 gene glycosylation disorder type 2C is a rare but significant condition that affects various bodily functions. Recognizing the symptoms early on can lead to timely diagnosis and management, improving the quality of life for those affected. The SLC35C1 Gene Glycosylation Disorder Type 2C Genetic Test plays a pivotal role in the diagnostic process, offering a clear path towards understanding and managing this genetic disorder. With advancements in genetic testing, facilities like DNA Labs UAE are at the forefront, providing essential services to those in need.
