At DNA Labs UAE, we are committed to providing comprehensive genetic testing services that cater to a wide range of genetic conditions, including rare genetic disorders. One such condition is syndactyly associated with the BHLHA9 gene, specifically mesoaxial synostotic syndactyly with phalangeal reduction. This rare genetic disorder affects the development of the hands and feet, leading to fused or webbed fingers or toes (syndactyly), along with other skeletal abnormalities. Understanding the symptoms and undergoing genetic testing can be crucial for early diagnosis and management of the condition.
Symptoms of BHLHA9 Gene Syndactyly Mesoaxial Synostotic with Phalangeal Reduction
The condition characterized by the BHLHA9 gene involves a range of symptoms that primarily affect the limbs. The most notable symptoms include:
- Mesoaxial synostotic syndactyly: This refers to the fusion of the middle fingers or toes, which can be partial or complete. The fusion affects the bones, leading to a reduction in mobility and function.
- Phalangeal reduction: Individuals with this condition may also experience a reduction in the number or size of the phalanges, which are the bones in the fingers and toes. This can result in shorter digits or even missing digits.
- Other skeletal abnormalities: In addition to the abnormalities in the hands and feet, individuals may also present with other skeletal issues such as abnormal bone growth or joint problems.
These symptoms can vary significantly in severity from person to person. Early diagnosis is crucial for managing the condition effectively and improving the quality of life for those affected.
Genetic Test for BHLHA9 Gene Syndactyly Mesoaxial Synostotic with Phalangeal Reduction
DNA Labs UAE offers a specialized genetic test designed to identify mutations in the BHLHA9 gene that are associated with mesoaxial synostotic syndactyly with phalangeal reduction. This test is an essential tool for confirming the diagnosis, understanding the risk of passing the condition to future generations, and guiding management and treatment decisions.
The test is performed using a simple blood sample, and our state-of-the-art laboratory ensures accurate and reliable results. The cost of the genetic test is 4400 AED, an investment in gaining valuable insights into the condition and enabling personalized care and management strategies.
For more information about the genetic test and to schedule an appointment, please visit our website at https://dnalabsuae.com/tests/bhlha9-gene-syndactyly-mesoaxial-synostotic-with-phalangeal-reduction-genetic-test/.
Conclusion
Understanding the symptoms of BHLHA9 gene syndactyly mesoaxial synostotic with phalangeal reduction is the first step towards managing this rare genetic condition. At DNA Labs UAE, we are dedicated to providing the highest quality genetic testing services to help individuals and families navigate the complexities of genetic disorders. With our specialized genetic test, individuals can receive a definitive diagnosis, paving the way for personalized treatment and management plans. If you or a loved one are experiencing symptoms related to this condition, we encourage you to reach out to us for support and testing services.
