Understanding the genetic underpinnings of various conditions is pivotal in the realm of medical science, and this is particularly true for rare syndromes such as Temtamy preaxial brachydactyly syndrome, which is linked to mutations in the CHSY1 gene. DNA Labs UAE stands at the forefront of genetic testing, offering comprehensive analyses to uncover the mysteries hidden within our genes. This article delves into the symptoms associated with the CHSY1 gene Temtamy preaxial brachydactyly syndrome, details of the genetic test provided by DNA Labs UAE, including its cost, and how to access this crucial service.
Symptoms of CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome
Temtamy preaxial brachydactyly syndrome, associated with mutations in the CHSY1 gene, is a rare genetic disorder characterized by several physical manifestations. Individuals affected by this syndrome may exhibit a range of symptoms, including but not limited to:
- Shortening of the digits (brachydactyly), particularly noticeable in the thumbs and first fingers.
- Preaxial brachydactyly, where the condition is more pronounced on the radial (thumb) side of the hands and feet.
- Additional skeletal abnormalities such as short stature and possible facial dysmorphisms.
- Intellectual disability or developmental delays in some cases.
- Cardiac anomalies which could be present from birth.
It is crucial to note that the severity and presence of these symptoms can vary significantly among individuals, making genetic testing a vital tool for accurate diagnosis and management of the condition.
Genetic Test for CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test designed to identify mutations in the CHSY1 gene, which are indicative of Temtamy preaxial brachydactyly syndrome. This test is an invaluable resource for families seeking answers about this rare condition, enabling early intervention and appropriate management strategies. The process involves a simple collection of a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in our state-of-the-art laboratory facilities.
Test Cost
The cost of the CHSY1 gene Temtamy preaxial brachydactyly syndrome genetic test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to detect the presence of mutations in the CHSY1 gene, providing families with crucial information regarding the condition.
Accessing the Test
To access this genetic test, individuals interested in learning more about the CHSY1 gene Temtamy preaxial brachydactyly syndrome, or those who suspect they or their family members may be affected by this condition, are encouraged to visit DNA Labs UAE. Here, you can find additional information about the test, including how to order it and prepare for your sample collection.
Understanding one’s genetic makeup can provide invaluable insights into health and well-being, especially for conditions as rare and complex as Temtamy preaxial brachydactyly syndrome. DNA Labs UAE is committed to providing accessible, accurate, and comprehensive genetic testing services, empowering individuals and families with the knowledge needed to navigate their health journeys confidently.
