Symptoms of TCTN3 Gene Orofaciodigital Syndrome Type 4 Genetic Test
Orofaciodigital Syndrome Type 4 (OFD4), also known as Mohr-Majewski syndrome, is a rare genetic disorder that affects the development of the oral cavity, facial features, and digits. This condition is caused by mutations in the TCTN3 gene, which plays a critical role in the development and function of primary cilia, essential for cellular signaling and development. Understanding the symptoms associated with TCTN3 gene mutations is crucial for early diagnosis and management of OFD4. DNA Labs UAE offers a comprehensive genetic test for those who suspect they or their family members might be affected by this condition.
Key Symptoms and Features
The symptoms of Orofaciodigital Syndrome Type 4 can vary significantly among affected individuals, but there are several key features that are commonly observed:
- Oral Anomalies: One of the hallmark symptoms includes cleft lip and/or palate, tongue anomalies such as lobulated or bifid tongue, and dental anomalies like missing or extra teeth.
- Facial Features: Distinctive facial features may include a broad nasal root, hypertelorism (widely spaced eyes), and micrognathia (small jaw).
- Digital Anomalies: Individuals may have polydactyly (extra fingers or toes), syndactyly (fusion of fingers or toes), or brachydactyly (short fingers or toes).
- Neurological Implications: Some affected individuals may experience developmental delays, intellectual disability, and in some cases, seizures.
- Other Health Concerns: Additional symptoms can include cystic kidneys, liver fibrosis, and respiratory problems.
It’s important to note that the severity and combination of these symptoms can vary widely. Some individuals may have mild symptoms, while others may experience more severe manifestations of the syndrome.
Genetic Testing for OFD4
DNA Labs UAE provides a specialized genetic test for the TCTN3 gene to confirm the diagnosis of Orofaciodigital Syndrome Type 4. This test is crucial for individuals displaying the symptoms mentioned above, as it can provide a definitive diagnosis, which is essential for the management and treatment of the condition. The test involves a simple DNA sample, usually obtained through a blood draw or cheek swab.
Test Cost
The cost of the TCTN3 Gene Orofaciodigital Syndrome Type 4 Genetic Test at DNA Labs UAE is 4400 AED. This price includes the cost of sample collection, genetic analysis, and a comprehensive report that provides a detailed explanation of the results. The test is conducted by experienced geneticists and laboratory technicians using state-of-the-art technology to ensure accuracy and reliability.
Why Choose DNA Labs UAE?
DNA Labs UAE is committed to providing high-quality genetic testing services to help individuals and families understand their genetic health. With a focus on accuracy, confidentiality, and customer care, DNA Labs UAE is the preferred choice for genetic testing in the region. For more information about the TCTN3 Gene Orofaciodigital Syndrome Type 4 Genetic Test or to schedule a test, please visit our website:
https://dnalabsuae.com/tests/tctn3-gene-orofaciodigital-syndrome-type-4-genetic-test/
Understanding the genetic basis of Orofaciodigital Syndrome Type 4 can empower affected individuals and their families with the knowledge needed to manage the condition effectively. Early diagnosis through genetic testing can play a crucial role in developing a comprehensive care plan that addresses the specific needs of those affected by OFD4.
