Ellis-van Creveld syndrome (EvC) is a rare genetic disorder that affects bone growth among other physical manifestations. This condition, inherited in an autosomal recessive manner, primarily involves the shortening of the forearms and lower legs (a condition known as mesomelic dwarfism), polydactyly (extra fingers or toes), and abnormalities in the fingernails and teeth. The EVC2 gene, along with EVC gene, plays a crucial role in the development of various body parts, including the limbs, heart, and teeth. Identifying symptoms early on can lead to better management and treatment of this syndrome. DNA Labs UAE offers a comprehensive genetic test specifically designed to identify mutations in the EVC2 gene associated with Ellis-van Creveld syndrome.
Symptoms of Ellis-van Creveld Syndrome
The symptoms of Ellis-van Creveld syndrome can vary significantly among individuals, but there are several common manifestations. Recognizing these symptoms early can be crucial for diagnosis and management:
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Short stature, particularly affecting the forearms and lower legs
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Polydactyly, which is the presence of extra fingers or toes
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Congenital heart defects, which are present at birth
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Abnormalities in the nails and teeth, such as peg-shaped teeth or absent/delayed tooth formation
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Thin, sparse hair and a narrow chest with short ribs
Importance of Genetic Testing for Ellis-van Creveld Syndrome
Genetic testing plays a pivotal role in diagnosing Ellis-van Creveld syndrome. It not only helps in confirming the diagnosis but also aids in understanding the condition’s severity, planning treatment, and offering genetic counseling to families. The EVC2 gene test offered by DNA Labs UAE is specifically designed to identify mutations responsible for this syndrome, providing crucial information for managing the condition effectively.
What to Expect from the EVC2 Gene Test
The EVC2 gene test involves collecting a small sample of blood or saliva from the individual. This sample is then analyzed in the laboratory to detect mutations in the EVC2 gene that are known to cause Ellis-van Creveld syndrome. The process is straightforward and involves minimal discomfort.
Cost of the EVC2 Gene Test
The cost of the EVC2 gene test at DNA Labs UAE is 4400 AED. While the test may represent a significant investment, it provides invaluable insights into managing Ellis-van Creveld syndrome and planning for the future, especially in terms of family planning and understanding the risk of recurrence in future pregnancies.
Why Choose DNA Labs UAE for Your Genetic Testing Needs?
DNA Labs UAE is a leading provider of genetic testing services in the United Arab Emirates. With a state-of-the-art laboratory and a team of experienced geneticists and healthcare professionals, DNA Labs UAE is dedicated to providing accurate, reliable, and confidential genetic testing services. By choosing DNA Labs UAE for your EVC2 gene test, you can expect the highest standards of care and support throughout the testing process.
For more information about the EVC2 gene Ellis-van Creveld syndrome genetic test and to schedule your test, please visit DNA Labs UAE.
Early diagnosis and understanding of Ellis-van Creveld syndrome through genetic testing can make a significant difference in the management and treatment of this condition. If you or a loved one are experiencing symptoms associated with this syndrome, consider reaching out to DNA Labs UAE to learn more about how genetic testing can help.
