Symptoms of DHCR24 Gene Desmosterolosis Genetic Test
Desmosterolosis, a rare genetic disorder, is caused by mutations in the DHCR24 gene. This condition affects cholesterol biosynthesis, leading to a variety of clinical manifestations. Recognizing the symptoms early is crucial for managing the condition effectively. DNA Labs UAE offers a comprehensive genetic test for DHCR24 gene mutations to aid in the diagnosis of desmosterolosis. The cost of the test is 4400 AED. For more information, visit our website.
Clinical Manifestations of Desmosterolosis
Desmosterolosis presents a spectrum of symptoms that can vary significantly among affected individuals. However, some common clinical features have been identified:
- Neurological Abnormalities: These can range from developmental delays, intellectual disability, to seizures. The severity can vary widely among patients.
- Congenital Anomalies: Individuals with desmosterolosis may present with multiple congenital anomalies, including cleft palate, microcephaly (small head size), and limb malformations.
- Growth Retardation: Affected individuals might experience growth retardation, which can be evident as early as infancy.
- Skin and Hair Abnormalities: Some patients may have abnormal skin pigmentation, sparse hair, and nail dysplasia.
- Visual and Hearing Impairments: Desmosterolosis can lead to vision problems and hearing loss, further complicating the condition.
It’s important to note that the presence and severity of symptoms can vary, and not all patients will experience all the listed manifestations.
Importance of Genetic Testing for Desmosterolosis
Early diagnosis through genetic testing is crucial for the management of desmosterolosis. The DHCR24 gene desmosterolosis genetic test provided by DNA Labs UAE can identify mutations in the DHCR24 gene, confirming the diagnosis and allowing for early intervention. With a test cost of 4400 AED, it is a valuable tool for families seeking answers to unexplained symptoms related to cholesterol metabolism disorders.
Genetic counseling is also recommended as part of the diagnostic process. It can provide families with information about the inheritance pattern, possible outcomes, and guidance on management and treatment options.
Conclusion
Desmosterolosis is a complex condition that requires a comprehensive approach for diagnosis and management. Recognizing the symptoms early and undergoing genetic testing for the DHCR24 gene mutations are critical steps towards effective treatment and support. DNA Labs UAE is committed to providing accurate and reliable genetic testing services, including the DHCR24 gene desmosterolosis genetic test. For more details about the test and to schedule your appointment, please visit https://dnalabsuae.com/tests/dhcr24-gene-desmosterolosis-genetic-test/.
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