DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a wide range of services designed to provide insights into various genetic conditions. Among the many tests available, the CHRND Gene Multiple Pterygium Syndrome Lethal Type Genetic Test stands out due to its significance in diagnosing a rare and severe genetic disorder. This test, priced at 4400 AED, is crucial for families seeking answers about this condition, which affects the development of several body parts, including the skin, muscles, and limbs.
Understanding Multiple Pterygium Syndrome Lethal Type
Multiple Pterygium Syndrome Lethal Type is a genetic disorder characterized by the presence of multiple pterygia (webs of skin) across the body, joint contractures, facial anomalies, and lung growth problems. This condition is caused by mutations in the CHRND gene, which plays a vital role in the normal development of the neuromuscular junction. The lethal type of this syndrome is particularly severe and often results in prenatal or infant mortality due to its complications.
Symptoms of Multiple Pterygium Syndrome Lethal Type
The symptoms of Multiple Pterygium Syndrome Lethal Type are diverse and can vary significantly from one individual to another. However, some of the most common symptoms include:
- Multiple pterygia (webs of skin) across different parts of the body, such as the neck, armpits, elbows, knees, and ankles
- Severe joint contractures, leading to reduced mobility or immobility of the affected joints
- Facial anomalies, including a high forehead, hypertelorism (widely spaced eyes), and a small jaw
- Cystic hygroma, which appears as a fluid-filled sac, typically at the nape of the neck
- Respiratory difficulties due to underdeveloped lungs and chest deformities
- Fetal hydrops, an abnormal accumulation of fluid in two or more fetal compartments
Due to the severity of these symptoms, early diagnosis is crucial for managing the condition and providing the best possible care to affected individuals.
CHRND Gene Multiple Pterygium Syndrome Lethal Type Genetic Test
The CHRND Gene Multiple Pterygium Syndrome Lethal Type Genetic Test offered by DNA Labs UAE is a comprehensive diagnostic tool designed to detect mutations in the CHRND gene. This test is essential for confirming the diagnosis of Multiple Pterygium Syndrome Lethal Type, especially in families with a history of the condition or when prenatal symptoms are detected. By understanding the genetic basis of the syndrome, healthcare providers can better plan for the management of the condition and offer support to affected families.
Test Cost and Process
The cost of the CHRND Gene Multiple Pterygium Syndrome Lethal Type Genetic Test is 4400 AED. The testing process involves collecting a DNA sample, typically through a blood draw or amniotic fluid sampling, which is then analyzed in the laboratory for the presence of mutations in the CHRND gene. Results are usually available within a few weeks and are provided with comprehensive counseling to help families understand the implications of the findings.
Conclusion
Multiple Pterygium Syndrome Lethal Type is a severe genetic condition that requires early diagnosis and comprehensive care. The CHRND Gene Multiple Pterygium Syndrome Lethal Type Genetic Test offered by DNA Labs UAE is a critical tool in the diagnosis and management of this syndrome. By providing accurate and timely information, this test plays a vital role in supporting affected individuals and their families. For more information or to schedule a test, please visit DNA Labs UAE.
