Understanding the symptoms of PACS1 Syndrome, also known as Schuurs-Hoeijmakers syndrome or Mental Retardation, Autosomal Dominant Type 17, is crucial for early diagnosis and management. This genetic disorder is caused by mutations in the PACS1 gene and affects various parts of the body, including the brain, leading to developmental delays and intellectual disabilities. DNA Labs UAE offers a comprehensive genetic test for this condition, which is pivotal for families seeking answers to their loved ones’ health mysteries.
What is PACS1 Syndrome?
PACS1 Syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay, and distinctive facial features. The condition is caused by mutations in the PACS1 gene, which plays a significant role in the normal development of various parts of the body. Since it is an autosomal dominant disorder, only one copy of the altered gene in each cell is sufficient to cause the disorder. This means that a parent with the mutation has a 50% chance of passing it on to their offspring.
Symptoms of PACS1 Syndrome
The symptoms of PACS1 Syndrome can vary widely among individuals but generally include a combination of intellectual disability, developmental delays, and physical abnormalities. Key symptoms include:
- Developmental delay, including speech and motor skills
- Intellectual disability of varying degrees
- Distinctive facial features such as a high forehead, arched eyebrows, wide-set eyes, a small lower jaw, and a thin upper lip
- Feeding difficulties in infancy
- Seizures
- Behavioral issues such as autism spectrum disorder or ADHD
- Low muscle tone (hypotonia)
It is important to note that the severity and combination of these symptoms can vary significantly from one individual to another.
Genetic Test for PACS1 Syndrome
DNA Labs UAE offers a genetic test specifically designed to detect mutations in the PACS1 gene, which can confirm a diagnosis of PACS1 Syndrome. This test is crucial for families seeking answers to developmental delays and intellectual disabilities in their children. Early diagnosis can lead to better management of the condition through various therapies and support services.
The cost of the PACS1 Gene Mental Retardation Autosomal Dominant Type 17 Genetic Test is 4400 AED. This comprehensive test is a valuable investment for families looking for a definitive diagnosis and a clear path forward in managing the condition.
Why Choose DNA Labs UAE?
DNA Labs UAE is a leading provider of genetic testing services in the region. With a state-of-the-art laboratory and a team of expert geneticists, the lab offers accurate and reliable testing for a wide range of genetic conditions, including PACS1 Syndrome. The lab is committed to providing confidential and compassionate care, understanding the sensitive nature of genetic testing.
For more information about the PACS1 Gene Mental Retardation Autosomal Dominant Type 17 Genetic Test and to schedule an appointment, please visit DNA Labs UAE.
Conclusion
Understanding and diagnosing PACS1 Syndrome early can significantly impact the quality of life for individuals and their families. With the genetic testing services provided by DNA Labs UAE, families can gain the knowledge they need to navigate the challenges of this condition. The PACS1 Gene Mental Retardation Autosomal Dominant Type 17 Genetic Test is a critical step towards understanding and managing this complex condition.
