The STT3A gene plays a crucial role in the proper functioning of the human body, specifically in the process known as glycosylation. This process is essential for the stability and function of proteins. When mutations occur in the STT3A gene, it can lead to a rare but serious condition known as Congenital Disorder of Glycosylation Type Iw (CDG-Iw). Understanding the symptoms of this condition is crucial for early diagnosis and treatment.
Symptoms of STT3A Gene Congenital Disorder of Glycosylation Type Iw
The symptoms of CDG-Iw can vary significantly from one individual to another, ranging from mild to severe. Early detection and diagnosis are crucial for managing the condition effectively. Some of the common symptoms associated with this disorder include:
- Developmental delay: This includes delays in reaching milestones such as sitting, walking, or talking.
- Intellectual disability: Varying degrees of intellectual challenges may be present.
- Seizures: Individuals with CDG-Iw may experience seizures due to abnormal electrical activity in the brain.
- Facial dysmorphism: This may include features such as a high forehead, underdeveloped midface, and a large nose.
- Liver dysfunction: Abnormal liver function tests may indicate liver involvement.
- Coagulation abnormalities: Problems with blood clotting can lead to excessive bleeding or clotting issues.
- Failure to thrive: This includes difficulty gaining weight or growing at the expected rate during childhood.
- Abnormal fat distribution: There may be an unusual distribution of fat, particularly in the buttocks and thighs.
It is important to note that not all individuals with CDG-Iw will experience all of these symptoms. The severity and combination of symptoms can vary widely among affected individuals.
Genetic Testing for STT3A Gene Congenital Disorder of Glycosylation Type Iw
Genetic testing is a critical step in diagnosing CDG-Iw, as it can confirm the presence of mutations in the STT3A gene. DNA Labs UAE offers a comprehensive genetic test specifically designed to identify mutations associated with this condition. The test involves a simple blood draw or saliva sample, making it a non-invasive procedure.
The cost of the STT3A Gene Congenital Disorder of Glycosylation Type Iw Genetic Test is 4400 AED. This test is a valuable tool for families seeking answers to unexplained symptoms related to developmental delays, intellectual disabilities, or other signs of CDG-Iw.
For more information about the STT3A Gene Congenital Disorder of Glycosylation Type Iw Genetic Test, or to schedule a test, please visit DNA Labs UAE.
Conclusion
Congenital Disorder of Glycosylation Type Iw is a complex condition that can significantly impact an individual’s quality of life. Early diagnosis through genetic testing is essential for managing the symptoms effectively and improving outcomes. DNA Labs UAE is committed to providing accurate and reliable genetic testing services, including the STT3A Gene Congenital Disorder of Glycosylation Type Iw Genetic Test, to help families navigate the challenges of this rare condition.
