Microcephaly is a medical condition in which a baby’s head is significantly smaller than expected, often due to abnormal brain development. One of the genetic causes of microcephaly is mutations in the STIL gene, leading to autosomal recessive type 7 microcephaly. Understanding the symptoms and genetic basis of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for this condition, providing essential information for affected families.
Symptoms of STIL Gene Microcephaly Autosomal Recessive Type 7
The symptoms of STIL gene microcephaly autosomal recessive type 7 can vary significantly among affected individuals. However, some common symptoms are observed in most cases. These include:
- Reduced Head Circumference: The most prominent symptom is a significantly smaller head size, diagnosed at birth or within the first few months of life.
- Developmental Delays: Children with this condition often experience delays in reaching developmental milestones such as sitting, standing, or walking.
- Intellectual Disability: Varying degrees of intellectual disability are common, affecting learning and cognitive functions.
- Motor Skill Impairments: Difficulties with coordination and motor skills, including fine and gross motor abilities, are often observed.
- Speech and Language Delays: Affected individuals may experience delays in speech and language development, sometimes requiring speech therapy.
- Seizures: A proportion of individuals with STIL gene microcephaly may experience seizures, necessitating medical management.
It’s important to note that the severity and combination of symptoms can vary widely. Early intervention and supportive care can significantly improve the quality of life for those affected.
Genetic Test for STIL Gene Microcephaly Autosomal Recessive Type 7
DNA Labs UAE offers a genetic test specifically designed to identify mutations in the STIL gene, which cause microcephaly autosomal recessive type 7. This test is a valuable tool for confirming the diagnosis, understanding the risk of recurrence in future pregnancies, and providing targeted support and interventions for affected families.
The test involves a simple blood sample from the child or individual suspected of having the condition. Highly skilled geneticists at DNA Labs UAE analyze the sample using advanced genetic sequencing techniques to identify any mutations in the STIL gene.
The cost of the STIL gene microcephaly autosomal recessive type 7 genetic test is 4400 AED. While the cost may seem significant, the insights provided by the test are invaluable for affected families, enabling them to make informed decisions about care and management.
Conclusion
Understanding the symptoms of STIL gene microcephaly autosomal recessive type 7 is crucial for early diagnosis and intervention. With the genetic test offered by DNA Labs UAE, families can gain valuable insights into this condition, facilitating better management and support. For more information about the test and to schedule an appointment, please visit DNA Labs UAE.
