Symptoms of SALL4 Gene IVIC Syndrome
IVIC Syndrome, a rare genetic disorder, is caused by mutations in the SALL4 gene. This condition presents a spectrum of symptoms that can vary significantly among affected individuals. Understanding these symptoms is crucial for early diagnosis and management of the syndrome.
Key Symptoms of IVIC Syndrome
The SALL4 gene plays a vital role in the development of various parts of the body. Mutations in this gene can lead to a range of clinical manifestations, including:
- Limb abnormalities – such as radial ray defects which may include thumb anomalies and forearm defects.
- Hearing loss – ranging from mild to profound, affecting one or both ears.
- Heart defects – congenital heart anomalies are common among individuals with IVIC Syndrome.
- Eye abnormalities – including ptosis (drooping of the upper eyelid), strabismus (crossed eyes), and cataracts.
- Renal anomalies – some individuals may experience kidney problems, which can vary in severity.
Importance of Genetic Testing for IVIC Syndrome
Given the variability of symptoms and the rare nature of IVIC Syndrome, genetic testing is an essential tool for accurate diagnosis. The SALL4 Gene IVIC Syndrome Genetic Test offers a definitive way to identify mutations in the SALL4 gene, confirming the diagnosis and aiding in the management plan for affected individuals.
Testing Process and Cost at DNA Labs UAE
At DNA Labs UAE, we offer the SALL4 Gene IVIC Syndrome Genetic Test, designed to detect mutations in the SALL4 gene accurately. The testing process involves a simple blood draw or saliva sample from the patient, which is then analyzed in our state-of-the-art laboratory.
The cost of the SALL4 Gene IVIC Syndrome Genetic Test is 4400 AED. This comprehensive test is a critical step in confirming the diagnosis of IVIC Syndrome, allowing for appropriate management and support for affected individuals and their families.
Conclusion
Understanding the symptoms of IVIC Syndrome and the importance of genetic testing can significantly impact the lives of those affected by this rare condition. DNA Labs UAE is committed to providing accurate and timely genetic testing services, including the SALL4 Gene IVIC Syndrome Genetic Test. For more information or to schedule a test, please visit our website at https://dnalabsuae.com/tests/sall4-gene-ivic-syndrome-genetic-test/.
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