Symptoms of HOXA13 Gene Hand-Foot-Uterus Syndrome
The HOXA13 gene hand-foot-uterus syndrome, also known as Guttmacher syndrome, is a rare genetic disorder that affects the development of the limbs, genitourinary tract, and, in some cases, the heart. This condition is caused by mutations in the HOXA13 gene, which plays a crucial role in the embryonic development of the extremities and the urogenital system. Understanding the symptoms of this syndrome is essential for early diagnosis and management.
Key Symptoms of the Syndrome
The symptoms of the HOXA13 gene hand-foot-uterus syndrome can vary significantly among affected individuals, but some common signs include:
- Limb abnormalities: This may include short fingers and toes (brachydactyly), fusion of the fingers or toes (syndactyly), and less commonly, missing digits (oligodactyly).
- Genitourinary defects: Affected individuals, especially females, may have abnormalities in the development of the uterus and cervix, which can lead to fertility issues. Males may experience undescended testes or hypospadias.
- Heart defects: While less common, some individuals with this syndrome may have congenital heart defects.
Importance of Genetic Testing for HOXA13 Gene Hand-Foot-Uterus Syndrome
Genetic testing plays a crucial role in the diagnosis of the HOXA13 gene hand-foot-uterus syndrome. Identifying the specific mutation in the HOXA13 gene can confirm the diagnosis, guide treatment decisions, and provide valuable information for family planning. Early diagnosis through genetic testing can significantly improve the quality of life for those affected by the syndrome, allowing for timely interventions and management of symptoms.
HOXA13 Gene Hand-Foot-Uterus Syndrome Genetic Test
DNA Labs UAE offers a comprehensive genetic test for the HOXA13 gene hand-foot-uterus syndrome. This test is designed to detect mutations in the HOXA13 gene that are responsible for the syndrome. With a focus on accuracy and reliability, our state-of-the-art laboratory ensures that individuals and families receive the critical information they need for diagnosis and future planning.
Test Cost
The cost of the HOXA13 gene hand-foot-uterus syndrome genetic test at DNA Labs UAE is 4400 AED. This investment covers the full spectrum of services, from sample collection to detailed genetic analysis and personalized report generation. Our team of genetic experts is committed to providing support and guidance throughout the testing process.
Conclusion
Understanding the symptoms of the HOXA13 gene hand-foot-uterus syndrome and the importance of genetic testing can empower individuals and families facing this rare condition. With the right information and support, managing the syndrome and planning for the future becomes more accessible. For more information about the HOXA13 gene hand-foot-uterus syndrome genetic test and to schedule your test, please visit our website.
“`
