Symptoms of ESCO2 Gene Roberts Syndrome Genetic Test
Roberts Syndrome, a rare genetic disorder, has been a subject of study and concern within the medical community due to its significant impact on individuals’ lives. It is caused by mutations in the ESCO2 gene, which plays a critical role in the development of bones, limbs, and facial features during embryonic growth. Understanding the symptoms of this disorder is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for Roberts Syndrome, providing essential information for affected families.
Identifying the Symptoms
Roberts Syndrome manifests through a variety of symptoms, which can vary significantly in severity among affected individuals. Some of the most common symptoms include:
- Prenatal Growth Retardation: Affected individuals may exhibit slowed growth within the womb, leading to low birth weight and length.
- Limb Abnormalities: One of the hallmark symptoms includes abnormalities in limb development, such as missing or shortened limbs (phocomelia), and syndactyly (fusion of fingers or toes).
- Facial Anomalies: Facial features may be distinctly affected, including cleft lip or palate, small lower jaw (micrognathia), and widely spaced eyes (hypertelorism).
- Intellectual Disability: While not always present, some individuals with Roberts Syndrome may experience varying degrees of intellectual disability or developmental delays.
- Skeletal Malformations: Skeletal system abnormalities, including rib and spine deformities, can also be symptomatic of this condition.
Early detection and diagnosis of these symptoms are vital for managing the condition and improving the quality of life for those affected.
The ESCO2 Gene Roberts Syndrome Genetic Test
DNA Labs UAE offers a specialized genetic test for Roberts Syndrome, targeting mutations in the ESCO2 gene. This test is a crucial step in confirming the diagnosis, understanding the severity of the condition, and planning appropriate management and treatment strategies. The test is conducted with utmost precision and care, ensuring reliable results for affected families.
Understanding the Test Process
The genetic test involves collecting a small sample of blood or saliva from the affected individual. This sample is then analyzed in the laboratory to detect any mutations in the ESCO2 gene that are indicative of Roberts Syndrome. The process is streamlined and designed to be as non-invasive as possible, making it suitable for individuals of all ages, including infants.
Cost of the Test
The cost of the ESCO2 Gene Roberts Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This cost is reflective of the sophisticated technology and expertise required to accurately identify the genetic mutations associated with the syndrome. While the cost may seem significant, the value of the information gained through this test cannot be overstated for families seeking answers and a path forward.
Conclusion
Roberts Syndrome is a challenging condition, but with the advancements in genetic testing, families have hope for early diagnosis and management. DNA Labs UAE is at the forefront of providing these essential genetic testing services. The ESCO2 Gene Roberts Syndrome Genetic Test is a key tool in unlocking the answers many families seek. For more information and to schedule a test, visit DNA Labs UAE.
