Symptoms of EXT1 Gene Langer-Giedion Syndrome Genetic Test
Langer-Giedion Syndrome, also known as Trichorhinophalangeal Syndrome type II, is a rare genetic disorder that affects various parts of the body. This condition is characterized by distinctive facial features, multiple noncancerous bone growths called exostoses, and short stature. DNA Labs UAE offers a comprehensive genetic test for the EXT1 gene, which is crucial in diagnosing Langer-Giedion Syndrome. This test is essential for families seeking understanding and management options for this condition.
Understanding Langer-Giedion Syndrome
Langer-Giedion Syndrome is caused by mutations in the EXT1 gene, which plays a significant role in bone growth and development. The absence or malfunction of this gene leads to the symptoms associated with the syndrome. The condition is inherited in an autosomal dominant pattern, meaning only one copy of the altered gene is sufficient to cause the disorder.
Key Symptoms of Langer-Giedion Syndrome
The symptoms of Langer-Giedion Syndrome can vary significantly from one individual to another. However, some common signs and symptoms include:
- Distinctive facial features such as a bulbous nose, long flat philtrum, thin upper lip, and micrognathia.
- Multiple exostoses that can lead to pain, deformity, and potential complications with bone growth.
- Short stature, often becoming noticeable in early childhood.
- Developmental delays, including speech and motor skills, in some cases.
- Mild to moderate intellectual disability or learning difficulties.
- Loose skin, especially in young children.
- Thin, sparse scalp hair and other abnormalities of the hair and skin.
EXT1 Gene Langer-Giedion Syndrome Genetic Test at DNA Labs UAE
DNA Labs UAE is at the forefront of genetic testing for various conditions, including Langer-Giedion Syndrome. The EXT1 Gene Langer-Giedion Syndrome Genetic Test is a sophisticated analysis designed to detect mutations in the EXT1 gene, providing conclusive evidence for diagnosis. This test is particularly important for individuals showing symptoms of the syndrome or those with a family history of the condition.
The cost of the EXT1 Gene Langer-Giedion Syndrome Genetic Test is 4400 AED. This investment covers the comprehensive analysis and detailed report provided by our expert geneticists, ensuring families receive the information they need for future planning and management.
For more information about the EXT1 Gene Langer-Giedion Syndrome Genetic Test and to schedule your appointment, please visit our website at DNA Labs UAE.
Conclusion
Langer-Giedion Syndrome is a complex condition that requires a comprehensive approach to diagnosis and management. The EXT1 Gene Langer-Giedion Syndrome Genetic Test offered by DNA Labs UAE provides a critical tool for families affected by this syndrome. With the detailed analysis provided by this test, families can gain a better understanding of the condition and explore potential management strategies. At a cost of 4400 AED, this test represents a valuable investment in your family’s health and well-being.
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