Frank-ter Haar syndrome is a rare genetic disorder that presents a variety of symptoms and challenges for those affected by it. This syndrome is caused by mutations in the SH3PXD2B gene, which plays a crucial role in the development and maintenance of bone, heart, and eye tissues. Recognizing the symptoms early on can lead to timely intervention and management of the condition. DNA Labs UAE offers a comprehensive genetic test for Frank-ter Haar syndrome, aiming to provide essential information for affected families and their healthcare providers.
Symptoms of Frank-ter Haar Syndrome
Frank-ter Haar syndrome is characterized by a wide range of symptoms, which can vary significantly in severity among individuals. Some of the most common symptoms include:
- Skeletal abnormalities: These can range from distinctive facial features, such as a prominent forehead, widely spaced eyes (hypertelorism), and a flat face, to more severe skeletal issues like rib anomalies and short stature.
- Eye problems: Many individuals with Frank-ter Haar syndrome experience severe eye issues, including glaucoma, increased pressure within the eye that can lead to blindness if not treated promptly, and megalocornea, an enlargement of the cornea.
- Cardiovascular issues: Heart defects are another critical aspect of this syndrome, with some patients presenting with conditions like patent ductus arteriosus or other structural heart anomalies.
- Developmental delays: Children with Frank-ter Haar syndrome may experience delays in reaching developmental milestones, including walking and talking. Some individuals may also have intellectual disabilities.
It is important to note that the severity and combination of these symptoms can vary widely among affected individuals. Early diagnosis through genetic testing can provide valuable insights into the management and treatment of the syndrome.
Genetic Test for Frank-ter Haar Syndrome
DNA Labs UAE offers a specialized genetic test for the SH3PXD2B gene mutation, responsible for Frank-ter Haar syndrome. This test is crucial for confirming the diagnosis and understanding the specific mutation causing the syndrome in an affected individual. Genetic testing can also offer information regarding the likelihood of passing the condition on to future generations, which is vital for family planning decisions.
The cost of the SH3PXD2B gene Frank-ter Haar syndrome genetic test at DNA Labs UAE is 4400 AED. This price includes the test itself, a comprehensive report, and a consultation with a genetic counselor who can help interpret the results and provide guidance on the next steps.
Why Choose DNA Labs UAE for Your Genetic Testing Needs?
Choosing DNA Labs UAE for your genetic testing needs ensures that you receive accurate and reliable results. Our laboratory is equipped with state-of-the-art technology, and our team comprises experienced geneticists and counselors who are committed to providing the highest standard of care. We understand the emotional and medical importance of genetic testing, and we strive to offer supportive and confidential services to all our clients.
For more information about the SH3PXD2B gene Frank-ter Haar syndrome genetic test and to schedule your appointment, please visit our website at https://dnalabsuae.com/tests/sh3pxd2b-gene-frank-ter-haar-syndrome-genetic-test/.
Understanding the genetic basis of Frank-ter Haar syndrome is a significant step towards managing and treating this condition. With the support of DNA Labs UAE, families can gain the insights they need to navigate the challenges of this syndrome more effectively.
