Genetic testing has become a cornerstone in the diagnosis and management of various inherited disorders. Among these, the TMEM165 gene glycosylation disorder type 2K (CDG2K) is a rare but significant condition that impacts multiple systems in the body. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including for CDG2K, to help diagnose this condition early and accurately.
Understanding TMEM165 Gene Glycosylation Disorder Type 2K
TMEM165 gene glycosylation disorder type 2K, also known as Congenital Disorder of Glycosylation Type 2K (CDG2K), is a genetic condition that affects glycosylation – the process by which sugars are attached to proteins and lipids. This process is crucial for the proper functioning of various systems in the body. Mutations in the TMEM165 gene disrupt this process, leading to a wide range of symptoms that can vary significantly in severity among affected individuals.
Symptoms of TMEM165 Gene Glycosylation Disorder Type 2K
The symptoms of CDG2K can be diverse, reflecting the widespread role of glycosylation in the body. Some of the more common symptoms include:
- Developmental delay and intellectual disability
- Growth retardation
- Seizures
- Liver dysfunction
- Bone abnormalities
- Problems with blood clotting
- Eye abnormalities
- Heart defects
It is important to note that the severity and combination of symptoms can vary widely among individuals with CDG2K.
Genetic Testing for TMEM165 Gene Glycosylation Disorder Type 2K
Genetic testing is a powerful tool in diagnosing TMEM165 gene glycosylation disorder type 2K. DNA Labs UAE offers a comprehensive genetic test for this condition, which can confirm a diagnosis and help guide treatment and management decisions. The test analyzes the TMEM165 gene for mutations known to cause CDG2K. A positive test result can provide a definitive diagnosis, while a negative result can help rule out this condition and guide further diagnostic investigations.
Test Cost
The cost of the TMEM165 gene glycosylation disorder type 2K genetic test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value of an accurate diagnosis cannot be overstated. An early and accurate diagnosis can lead to better management of the condition, potentially improving the quality of life for those affected.
Why Choose DNA Labs UAE for Your Genetic Testing Needs?
DNA Labs UAE is a leader in genetic testing services in the United Arab Emirates. Our state-of-the-art laboratory is equipped with the latest technology, and our team of experts is dedicated to providing accurate and reliable results. We understand the importance of timely and precise diagnosis, which is why we strive to provide our services in a compassionate and efficient manner.
For more information about the TMEM165 gene glycosylation disorder type 2K genetic test and to schedule your test, please visit our website at DNA Labs UAE.
Genetic testing can be a crucial step in the journey towards understanding and managing genetic disorders. With the right support and resources, individuals and families affected by TMEM165 gene glycosylation disorder type 2K can navigate the challenges of this condition more effectively. DNA Labs UAE is committed to providing the highest quality genetic testing services to help achieve this goal.
