Hennekam Lymphangiectasia-Lymphedema Syndrome Type 1 (HLLS1) is a rare genetic disorder characterized by a combination of lymphedema, lymphangiectasia, and developmental anomalies. It is caused by mutations in the CCBE1 gene, which plays a crucial role in the development and maintenance of the lymphatic system. This condition can lead to significant medical complications and impact the quality of life of affected individuals. Understanding the symptoms and undergoing genetic testing can be crucial for early diagnosis and management.
Symptoms of Hennekam Lymphangiectasia-Lymphedema Syndrome Type 1
The symptoms of HLLS1 can vary widely among affected individuals, but they typically involve abnormalities related to the lymphatic system and other developmental issues. Key symptoms include:
- Lymphedema: Swelling due to fluid retention, often noticeable in limbs. This can lead to discomfort, restricted mobility, and recurrent infections.
- Lymphangiectasia: Dilation of the lymphatic vessels, which can cause leakage of lymph fluid into surrounding tissues, further exacerbating swelling and potential for infection.
- Facial Anomalies: Affected individuals may have distinctive facial features such as a flat nasal bridge, widely spaced eyes, and small chin.
- Intellectual Disability: Some individuals with HLLS1 may experience varying degrees of intellectual disability or developmental delays.
- Gastrointestinal Issues: Problems such as malabsorption or protein-losing enteropathy due to lymphatic abnormalities in the gut.
It is important to note that the severity and combination of symptoms can differ greatly among individuals with HLLS1. Early diagnosis and intervention can help manage symptoms and improve outcomes.
CCBE1 Gene Hennekam Lymphangiectasia-Lymphedema Syndrome Type 1 Genetic Test
Genetic testing for mutations in the CCBE1 gene is essential for confirming the diagnosis of HLLS1. DNA Labs UAE offers a comprehensive genetic test designed to identify mutations in the CCBE1 gene that are associated with Hennekam Lymphangiectasia-Lymphedema Syndrome Type 1. This test is crucial for affected individuals, as well as for families who may be at risk.
The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of mutations in the CCBE1 gene. The process is straightforward and is performed by experienced professionals to ensure accuracy and reliability of the results.
The cost of the CCBE1 Gene Hennekam Lymphangiectasia-Lymphedema Syndrome Type 1 Genetic Test is 4400 AED. This investment can provide invaluable information for affected individuals and their families, enabling them to make informed decisions about their health and management options.
For more information about the test and to schedule an appointment, please visit DNA Labs UAE.
Early diagnosis through genetic testing can significantly impact the management and treatment of Hennekam Lymphangiectasia-Lymphedema Syndrome Type 1. If you or a family member are experiencing symptoms associated with this condition, consider reaching out to DNA Labs UAE for a consultation. The right information and support can make a significant difference in navigating this rare genetic disorder.
