Ichthyosis congenital autosomal recessive type 9, caused by mutations in the CERS3 gene, is a rare genetic disorder that significantly impacts the skin. DNA Labs UAE offers a comprehensive genetic test for this condition, aimed at providing crucial information for affected individuals and their families. The test, priced at 4400 AED, is a vital tool in understanding and managing this condition.
Ichthyosis congenital autosomal recessive type 9 is characterized by a range of symptoms that generally appear at birth or in early infancy. The primary symptom is the presence of thick, plate-like scales on the skin, which can be dark and may cause the skin to appear tight and rigid. This condition can significantly impact the quality of life, making early diagnosis and management critical.
Symptoms of CERS3 Gene Ichthyosis Congenital Autosomal Recessive Type 9
The symptoms of this condition are primarily dermatological, affecting the skin’s appearance, texture, and overall health. Key symptoms include:
- Severe Scaling: The skin develops thick, dark scales that can cover large areas of the body. These scales can be tight, causing discomfort and limiting mobility.
- Dry Skin: Affected individuals often have extremely dry skin, which can lead to itching and discomfort.
- Ectropion: In some cases, the tightness of the skin can lead to ectropion, a condition where the eyelids turn outward, exposing the inner eyelid.
- Increased Risk of Infections: The cracked and broken skin can be an entry point for bacteria, leading to increased susceptibility to skin infections.
- Difficulty with Temperature Regulation: The skin’s compromised barrier function can make it challenging for affected individuals to regulate their body temperature, leading to overheating or an increased risk of hypothermia.
It’s important to note that the severity and specific symptoms can vary significantly from one individual to another. Early diagnosis through genetic testing can provide families with the information needed to manage the condition effectively.
Genetic Testing for CERS3 Gene Ichthyosis
DNA Labs UAE offers a genetic test specifically designed to identify mutations in the CERS3 gene, responsible for ichthyosis congenital autosomal recessive type 9. This test is a critical step in confirming a diagnosis, enabling targeted management and care strategies. Priced at 4400 AED, the test is conducted with the highest standards of accuracy and confidentiality.
Early diagnosis through genetic testing can significantly impact the management of the condition. It allows healthcare providers to offer personalized care plans, advise on skin care and management, and prevent complications associated with the condition. Families can also benefit from genetic counseling, providing them with a comprehensive understanding of the condition, its inheritance pattern, and the implications for other family members.
For more information on the CERS3 gene ichthyosis congenital autosomal recessive type 9 genetic test, including how to arrange for testing, please visit DNA Labs UAE.
In conclusion, ichthyosis congenital autosomal recessive type 9 is a challenging condition, but with the right diagnosis and management, individuals affected can lead healthier and more comfortable lives. DNA Labs UAE is committed to providing accurate and comprehensive genetic testing services, including the CERS3 gene test, to support affected individuals and their families.
