Chanarin-Dorfman Syndrome (CDS) is a rare genetic disorder that affects multiple organs and tissues across the body. It is primarily characterized by the accumulation of fats (lipids) in various cells, leading to a wide range of symptoms. The disorder is caused by mutations in the ABHD5 gene, which plays a crucial role in lipid metabolism. Understanding the symptoms of Chanarin-Dorfman Syndrome is essential for early diagnosis and management. At DNA Labs UAE, we offer a comprehensive genetic test for the ABHD5 gene to help diagnose this condition. The cost of the test is 4400 AED. For more information, please visit DNA Labs UAE.
Symptoms of Chanarin-Dorfman Syndrome
Chanarin-Dorfman Syndrome manifests through a variety of symptoms, which can vary significantly from one individual to another. The most common symptoms include:
- Icthyosis: A condition characterized by dry, scaly skin. It is one of the earliest signs of CDS and often the first to prompt medical consultation.
- Hepatomegaly: An enlarged liver, which may lead to liver dysfunction. This symptom results from the accumulation of lipids in liver cells.
- Myopathy: Muscle weakness or muscle disease is also associated with CDS, affecting the skeletal muscles and leading to difficulties in physical activities.
- Neurological symptoms: In some cases, individuals with CDS may experience neurological issues such as developmental delays or seizures, although these are less common.
- Hearing loss: Some individuals may experience sensorineural hearing loss as part of the syndrome’s manifestation.
- Eye abnormalities: Lipid deposits can also affect the eyes, leading to various visual impairments.
It’s important to note that the severity and combination of symptoms can vary widely among individuals with Chanarin-Dorfman Syndrome. Early diagnosis and intervention are crucial in managing the symptoms and improving the quality of life for those affected.
ABHD5 Gene Chanarin-Dorfman Syndrome Genetic Test
At DNA Labs UAE, we offer a genetic test specifically designed to identify mutations in the ABHD5 gene associated with Chanarin-Dorfman Syndrome. The test is a crucial step in confirming the diagnosis of CDS, especially in individuals who exhibit the symptoms mentioned above. The process involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in our state-of-the-art laboratory.
The cost of the ABHD5 gene Chanarin-Dorfman Syndrome genetic test is 4400 AED. This investment can provide invaluable information for affected individuals and their families, guiding treatment and management strategies to enhance the quality of life and mitigate the impact of the syndrome’s symptoms.
For more information about the ABHD5 gene Chanarin-Dorfman Syndrome genetic test and to schedule your testing appointment, please visit our website at DNA Labs UAE. Our team of experts is committed to providing accurate, confidential, and comprehensive genetic testing services to help you understand your genetic health.
