Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder that presents a spectrum of physical anomalies and developmental delays. This condition is primarily associated with mutations in the EFTUD2 gene. Understanding the symptoms and seeking early genetic testing can significantly impact the management and prognosis of the disorder. DNA Labs UAE offers a comprehensive genetic test for diagnosing this condition, ensuring families have access to crucial information for the care and support of affected individuals.
Understanding EFTUD2 Gene Mutation
The EFTUD2 gene plays a critical role in the development of the facial structure and skull during the embryonic stage. Mutations in this gene can lead to the abnormal development of these structures, resulting in the clinical manifestations of MFDM. The genetic test for this condition is essential not only for diagnosis but also for understanding the mutation’s implications, guiding treatment options, and providing genetic counseling for affected families.
Symptoms of Mandibulofacial Dysostosis with Microcephaly
MFDM presents a range of symptoms that can vary significantly in severity among individuals. These include:
- Microcephaly (small head size)
- Mandibulofacial dysostosis (abnormal development of the jaw and face)
- Ear anomalies, including hearing loss
- Choanal atresia or stenosis (narrowing or blockage of the nasal passage)
- Cleft palate or highly arched palate
- Micrognathia (small jaw)
- Eye abnormalities such as microphthalmia (small eyes)
- Intellectual disability or developmental delays
- Heart defects
It is important to note that the presence and severity of these symptoms can vary, and not all individuals with an EFTUD2 gene mutation will have all these symptoms.
Importance of Genetic Testing for EFTUD2 Gene Mutation
Genetic testing for the EFTUD2 gene mutation is crucial for confirming the diagnosis of MFDM. This test can provide families with valuable information for managing the condition, including insights into potential treatments, interventions, and the likelihood of the condition being passed on to future generations. Early diagnosis through genetic testing can significantly improve the quality of life for those affected by facilitating timely interventions and support.
Test Cost and Procedure
The cost of the EFTUD2 gene mandibulofacial dysostosis with microcephaly genetic test at DNA Labs UAE is 4400 AED. The test involves a simple blood draw or a cheek swab from the affected individual. The sample is then analyzed in the laboratory to detect mutations in the EFTUD2 gene that are indicative of MFDM. The results of this test can provide a definitive diagnosis and are typically available within a few weeks.
Conclusion
Mandibulofacial dysostosis with microcephaly is a challenging condition that affects individuals from birth. Through the EFTUD2 gene mandibulofacial dysostosis with microcephaly genetic test offered by DNA Labs UAE, families can gain a better understanding of the condition and access the support and interventions necessary for managing the symptoms. With a cost of 4400 AED, this test is a valuable resource for affected families seeking clarity and direction in the care of their loved ones.
For more information on this genetic test and to schedule an appointment, visit DNA Labs UAE.
