Simpson-Golabi-Behmel Syndrome (SGBS) Type 1 is a rare genetic condition that primarily affects males. It is characterized by pre- and postnatal overgrowth with a range of physical anomalies and variable cognitive impacts. This condition is caused by mutations in the GPC3 gene, which plays a crucial role in regulating cellular growth and division. Understanding the symptoms and getting a timely diagnosis through genetic testing can significantly improve the management of the condition. DNA Labs UAE offers a comprehensive GPC3 Gene Simpson-Golabi-Behmel Syndrome Type 1 Genetic Test, priced at 4400 AED, to aid in the diagnosis of this complex syndrome.
Symptoms of Simpson-Golabi-Behmel Syndrome Type 1
SGBS Type 1 presents a wide array of symptoms, making it crucial for healthcare providers and parents to be aware of the signs that may indicate the presence of this genetic disorder. The symptoms can vary significantly from one individual to another but commonly include:
- Overgrowth: Individuals with SGBS Type 1 typically exhibit pre- and postnatal overgrowth. This may be evident through increased birth weight and length, rapid growth in early childhood, and large body size.
- Distinctive Facial Features: Many affected individuals have characteristic facial features such as macrocephaly (large head size), a broad nose, an enlarged tongue (macroglossia), and widely spaced eyes (ocular hypertelorism).
- Skeletal Abnormalities: Skeletal issues, including rib anomalies, scoliosis (curvature of the spine), and large hands and feet, are common.
- Organ Enlargement: Enlargement of organs such as the liver, spleen, and kidneys may occur in individuals with SGBS Type 1.
- Developmental Delays: While not universal, some children with SGBS Type 1 experience mild to moderate intellectual disability or developmental delays.
- Increased Risk of Tumors: There is an elevated risk of developing certain types of tumors, both benign and malignant, in individuals with SGBS Type 1.
It is important to note that the presence and severity of symptoms can vary widely among affected individuals. Early diagnosis and intervention are key to managing the condition effectively.
GPC3 Gene Simpson-Golabi-Behmel Syndrome Type 1 Genetic Test
DNA Labs UAE offers a genetic test specifically designed to diagnose Simpson-Golabi-Behmel Syndrome Type 1. This test targets mutations in the GPC3 gene, providing a definitive diagnosis of the condition. The test is priced at 4400 AED and is a crucial step for families seeking answers to their child’s developmental and physical anomalies. Early diagnosis through genetic testing can facilitate better management of the syndrome, including tailored medical care and interventions to address developmental delays, physical anomalies, and the monitoring for tumor development.
The testing process is straightforward, involving a simple blood sample from the affected individual. The sample is then analyzed in our state-of-the-art laboratory, with results typically available within a few weeks. Our team of genetic counselors and medical professionals is available to provide support and guidance throughout the testing process and to help interpret the results.
For more information about the GPC3 Gene Simpson-Golabi-Behmel Syndrome Type 1 Genetic Test and to schedule a test, please visit our website at DNA Labs UAE.
Understanding the genetic basis of Simpson-Golabi-Behmel Syndrome Type 1 through comprehensive genetic testing is crucial for affected families. It not only aids in diagnosis but also helps in managing the condition effectively. If you suspect your child may be showing symptoms of SGBS Type 1, consider reaching out to DNA Labs UAE for a consultation. Early detection and intervention can make a significant difference in the quality of life for individuals with this syndrome.
