Microcephaly is a medical condition where a baby’s head is significantly smaller than expected, often due to abnormal brain development. Autosomal recessive microcephaly type 12, linked to the CDK6 gene, is a rare genetic disorder that can lead to a range of developmental issues. Recognizing the symptoms early on can be crucial for managing the condition effectively. DNA Labs UAE offers a comprehensive genetic test for this condition, providing essential information for affected families.
Symptoms of CDK6 Gene Microcephaly Autosomal Recessive Type 12
The symptoms associated with CDK6 gene microcephaly autosomal recessive type 12 can vary significantly among individuals but typically include:
- Reduced Head Size: The most characteristic symptom is a significantly smaller head circumference, noticeable at birth or within the first few months of life.
- Developmental Delays: Affected individuals may experience delays in reaching developmental milestones such as sitting up, crawling, or speaking.
- Intellectual Disability: Varying degrees of intellectual disability are common, ranging from mild to severe.
- Motor Skills Impairment: Challenges with motor skills, including coordination and muscle tone, may be observed.
- Seizures: Some individuals with this condition may experience seizures, which can vary in frequency and severity.
- Dysmorphic Facial Features: While not always present, some affected individuals may have distinct facial features as part of the syndrome.
It’s important to note that the severity and combination of symptoms can vary widely. Early diagnosis through genetic testing can provide valuable information for managing the condition.
Genetic Test for CDK6 Gene Microcephaly
DNA Labs UAE offers a genetic test specifically designed to diagnose autosomal recessive microcephaly type 12 caused by mutations in the CDK6 gene. This test is a crucial tool for families seeking answers about developmental delays and other related symptoms in their children.
The process involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for mutations in the CDK6 gene. The results of this test can confirm the diagnosis and help guide further management and treatment strategies.
The cost of the CDK6 gene microcephaly autosomal recessive type 12 genetic test at DNA Labs UAE is 4400 AED. While the price may seem significant, the information provided by this test can be invaluable for affected families. It offers insights into the condition that can help in planning for the child’s care and support needs.
For more information about the test and to schedule an appointment, please visit DNA Labs UAE.
Conclusion
CDK6 gene microcephaly autosomal recessive type 12 is a rare but serious condition that can significantly impact a child’s development. Recognizing the symptoms early and obtaining a definitive diagnosis through genetic testing can make a substantial difference in managing the condition. DNA Labs UAE is committed to providing accurate and comprehensive genetic testing services, including the CDK6 gene test, to support affected families in the UAE and beyond.
