Microcephaly with cortical malformations, Autosomal Recessive Type 2, is a rare genetic disorder caused by mutations in the WDR62 gene. This condition is characterized by significantly reduced head size (microcephaly) and abnormalities in the cerebral cortex, the part of the brain responsible for many important functions including memory, attention, perceptual awareness, thought, language, and consciousness. Understanding the symptoms and getting an accurate diagnosis can be critical for managing this condition. DNA Labs UAE offers a specialized genetic test for this disorder, priced at 4400 AED.
Symptoms of WDR62 Gene Microcephaly with Cortical Malformations Autosomal Recessive Type 2
The symptoms of this condition are primarily neurological and can vary significantly in severity among affected individuals. Some of the most common symptoms include:
- Significantly smaller head size compared to peers of the same age and sex.
- Developmental delays, including in speech and motor skills.
- Intellectual disability, ranging from mild to severe.
- Seizures, which can be difficult to manage.
- Difficulties with coordination and balance.
- Abnormalities in brain structure, particularly in the cerebral cortex, which can be detected through imaging studies like MRI.
It is important to note that the severity and combination of these symptoms can vary widely. Some individuals may have mild symptoms and relatively normal intellectual development, while others may face significant challenges.
Diagnosing WDR62 Gene Microcephaly with Cortical Malformations Autosomal Recessive Type 2
Diagnosis of this condition typically involves a combination of clinical evaluation, family history, and genetic testing. Given the complexity of the symptoms and the need for an accurate diagnosis to guide treatment and management, DNA Labs UAE offers a comprehensive genetic test specifically designed to identify mutations in the WDR62 gene associated with this condition. The test is priced at 4400 AED and can provide crucial information for affected individuals and their families.
Benefits of Genetic Testing
Genetic testing for conditions like Microcephaly with cortical malformations, Autosomal Recessive Type 2, offers several benefits:
- It can provide a definitive diagnosis, helping to guide treatment and management decisions.
- It can help identify other at-risk family members who may benefit from genetic counseling and testing.
- It offers the possibility of prenatal diagnosis in future pregnancies for families with a known mutation.
Understanding the genetic basis of this condition can also contribute to a broader understanding of the disease, potentially leading to the development of new treatments and interventions.
Conclusion
Microcephaly with cortical malformations, Autosomal Recessive Type 2, is a challenging condition that requires careful diagnosis and management. The genetic test offered by DNA Labs UAE for 4400 AED represents a valuable tool for families seeking answers. For more information on this test and how to proceed with testing, please visit DNA Labs UAE.
