Ichthyosis congenital autosomal recessive type 1, also known as ARCI1, is a rare genetic condition that affects the skin. It is caused by mutations in the TGM1 gene, which plays a crucial role in the development of the skin’s outer layer. This condition is characterized by dry, thickened, scaly skin that can be present from birth. Understanding the symptoms and undergoing genetic testing can provide valuable insights for affected individuals and their families. DNA Labs UAE offers a comprehensive TGM1 Gene Ichthyosis Congenital Autosomal Recessive Type 1 Genetic Test for those who wish to know their genetic status regarding this condition. The cost of the test is 4400 AED.
Symptoms of TGM1 Gene Ichthyosis Congenital Autosomal Recessive Type 1
The symptoms of this condition are primarily dermatological and can vary in severity among affected individuals. Common symptoms include:
- Severe scaling of the skin, which may be white, gray, or brown
- The skin may have a tight appearance, especially around the joints, leading to restricted movement
- Increased risk of dehydration due to the compromised skin barrier
- Difficulty regulating body temperature due to the altered skin surface
- Potential for secondary infections due to cracks and fissures in the skin
- Development of blisters and erythroderma (red skin) in severe cases
It is important to note that the symptoms can vary widely among affected individuals, and some may experience milder forms of the condition. Early diagnosis and management are crucial to improving the quality of life for those affected.
Importance of Genetic Testing for TGM1 Gene Ichthyosis
Genetic testing for mutations in the TGM1 gene can provide definitive diagnosis of ichthyosis congenital autosomal recessive type 1. This is particularly important for families with a history of the condition, as it can help in understanding the risk of passing the mutation to future generations. Furthermore, genetic testing can aid in the differential diagnosis from other types of ichthyosis and skin conditions, guiding appropriate management and treatment strategies.
What to Expect from the TGM1 Gene Ichthyosis Genetic Test
The TGM1 gene ichthyosis genetic test offered by DNA Labs UAE involves collecting a small sample of blood or saliva from the patient. The sample is then analyzed in the laboratory to detect mutations in the TGM1 gene that are known to cause the condition. The test is highly accurate and can provide peace of mind for individuals and families seeking answers about their genetic health.
Cost of the Test
The cost of the TGM1 gene ichthyosis congenital autosomal recessive type 1 genetic test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value of the information gained from the test can be invaluable for affected individuals and their families. It can facilitate early intervention, personalized management plans, and informed decisions about family planning.
Conclusion
Ichthyosis congenital autosomal recessive type 1 is a rare but impactful genetic condition that affects the skin. Symptoms can vary widely among affected individuals, but common signs include severe scaling, tight skin, and increased risk of secondary infections. Genetic testing for mutations in the TGM1 gene, such as the one offered by DNA Labs UAE, can provide a definitive diagnosis and guide management and treatment strategies. The cost of the test is 4400 AED, an investment in understanding and managing this condition more effectively.
