Ichthyosis lamellar type 2, also known as Harlequin ichthyosis, is a severe genetic disorder that affects the skin. This condition is caused by mutations in the ABCA12 gene, which plays a crucial role in the development of the lipid barrier of the skin. Individuals with this condition are born with very hard, thick skin covering most of their bodies. This can lead to severe complications and requires immediate medical attention. In this article, we will discuss the symptoms of ABCA12 gene ichthyosis lamellar type 2 and the importance of genetic testing, specifically focusing on the genetic test provided by DNA Labs UAE, which costs 4400 AED.
Symptoms of ABCA12 Gene Ichthyosis Lamellar Type 2
The symptoms of ABCA12 gene ichthyosis lamellar type 2 are profound and noticeable at birth. The most distinctive symptom is the thick, plate-like scales covering the newborn’s body, giving it a “harlequin” appearance. These scales can restrict movement and lead to breathing difficulties. Other symptoms include:
- Severe cracking of the skin, leading to an increased risk of infection.
- Abnormalities in facial features, such as a flattened nose, small and poorly developed ears, and eyelids that are turned inside out (ectropion).
- Difficulty in moving the limbs due to the tightness of the skin.
- Problems with temperature regulation because the thick skin does not allow normal heat loss.
- Dehydration, as the skin is not able to retain water effectively.
Due to the severity of these symptoms, immediate medical intervention is often required to manage the condition and improve the quality of life for the affected individual.
The Importance of Genetic Testing for Ichthyosis Lamellar Type 2
Genetic testing plays a crucial role in the diagnosis and management of ABCA12 gene ichthyosis lamellar type 2. By identifying the specific mutation in the ABCA12 gene, healthcare providers can confirm the diagnosis, predict the course of the disease, and provide personalized care plans. Genetic testing is also invaluable for family planning, as it can help identify carriers of the gene mutation and assess the risk of passing the condition on to future generations.
DNA Labs UAE ABCA12 Gene Ichthyosis Lamellar Type 2 Genetic Test
DNA Labs UAE offers a comprehensive genetic test for ichthyosis lamellar type 2, targeting the ABCA12 gene. This test is designed to provide accurate and reliable results, aiding in the diagnosis and management of this severe skin condition. The cost of the test is 4400 AED, which is a worthwhile investment for families seeking clarity on this condition. The test is performed using a simple blood sample, and the results are provided in a detailed report by the expert team at DNA Labs UAE.
For more information about the ABCA12 gene ichthyosis lamellar type 2 genetic test and to schedule your test, please visit DNA Labs UAE.
In conclusion, ABCA12 gene ichthyosis lamellar type 2 is a severe genetic disorder that requires immediate and comprehensive medical care. Genetic testing is a critical tool in the diagnosis and management of this condition, providing affected individuals and their families with the information needed to make informed decisions about their care. DNA Labs UAE is at the forefront of providing these essential genetic testing services, offering hope and support to those affected by this challenging condition.
