Chylomicron retention disease, also known as Anderson’s disease or Hypobetalipoproteinemia Type 1, is a rare genetic disorder that affects the body’s ability to absorb fats and certain vitamins from the diet. This condition is caused by mutations in the SAR1B gene, which plays a crucial role in the assembly and secretion of chylomicrons, particles that transport dietary lipids from the intestines to other parts of the body. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for those who suspect they may be affected by this condition.
Symptoms of SAR1B Gene Chylomicron Retention Disease
The symptoms of SAR1B gene chylomicron retention disease can vary widely among affected individuals, but they typically revolve around the malabsorption of fats and fat-soluble vitamins (A, D, E, and K). Common symptoms include:
- Failure to thrive in infancy
- Chronic diarrhea or fatty stools (steatorrhea)
- Abdominal distension and discomfort
- Developmental delay or intellectual disability in some cases
- Muscle weakness and fatigue
- Vitamin deficiencies, leading to conditions such as night blindness (Vitamin A deficiency), osteoporosis (Vitamin D deficiency), neurological problems (Vitamin E deficiency), and coagulation disorders (Vitamin K deficiency)
It is important to note that these symptoms can vary significantly in severity and may not always be indicative of chylomicron retention disease alone. Therefore, genetic testing is crucial for a definitive diagnosis.
Genetic Test for SAR1B Gene Chylomicron Retention Disease
DNA Labs UAE offers a specialized genetic test to diagnose chylomicron retention disease by analyzing the SAR1B gene for mutations. This test is essential for individuals who exhibit symptoms of the disease or have a family history of related conditions. Early diagnosis can lead to better management of symptoms and prevention of complications associated with vitamin deficiencies.
The test involves a simple blood draw, and the sample is then analyzed in our state-of-the-art laboratory. Our team of experts uses the latest genetic sequencing technology to ensure accurate and reliable results. The entire process, from sample collection to result delivery, is designed to be smooth and stress-free for the patient.
Test Cost
The cost of the SAR1B gene chylomicron retention disease genetic test at DNA Labs UAE is 4400 AED. This price includes the cost of sample collection, genetic analysis, and a comprehensive report that explains the results in detail. Our team is committed to providing support and guidance throughout the testing process and helping individuals understand their results and the implications for their health.
Conclusion
Chylomicron retention disease is a rare but serious condition that can lead to significant health issues if left undiagnosed. Understanding the symptoms and seeking genetic testing early can make a significant difference in the management of the disease. DNA Labs UAE is dedicated to providing accurate and accessible genetic testing services, including the SAR1B gene chylomicron retention disease genetic test. For more information or to schedule a test, please visit our website.
