Fetal Akinesia Deformation Sequence (FADS) is a rare genetic disorder that presents a significant challenge for affected families. This condition, characterized by decreased fetal movement (fetal akinesia), can lead to a range of developmental issues including joint deformities, facial anomalies, lung growth problems, and in severe cases, fetal death. The RAPSN gene plays a crucial role in this condition, and understanding its implications is vital for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test specifically designed to detect mutations in the RAPSN gene, providing essential information for families and healthcare providers.
Understanding Fetal Akinesia Deformation Sequence
Fetal Akinesia Deformation Sequence is a complex condition with a spectrum of manifestations. It is primarily caused by disruptions in the neuromuscular junction, where the RAPSN gene plays a pivotal role. Mutations in this gene can lead to inadequate muscle movement before birth, resulting in a variety of complications. The severity and combination of symptoms can vary significantly from case to case, making it a particularly challenging condition to diagnose and manage without specific genetic testing.
Symptoms of RAPSN Gene Fetal Akinesia Deformation Sequence
The symptoms associated with FADS due to mutations in the RAPSN gene are diverse and can affect multiple systems in the body. Some of the most common symptoms include:
- Reduced fetal movement
- Facial anomalies such as a small jaw (micrognathia), cleft lip or palate, and low-set ears
- Contractures of the joints, leading to deformities
- Pulmonary hypoplasia, or underdevelopment of the lungs
- Short umbilical cord
- Severe cases may result in fetal or neonatal death due to the extensive anomalies and complications
Early detection through genetic testing can provide critical information for managing the condition and planning for the care of the affected child.
The RAPSN Gene Fetal Akinesia Deformation Sequence Genetic Test
DNA Labs UAE is at the forefront of genetic testing, offering a specialized test for the RAPSN gene mutation associated with Fetal Akinesia Deformation Sequence. This test is designed to identify mutations in the RAPSN gene, providing invaluable information for expecting parents and their healthcare providers. The process involves collecting a DNA sample, typically through a blood draw or amniocentesis, and analyzing it for specific genetic mutations.
Test Cost
The cost of the RAPSN Gene Fetal Akinesia Deformation Sequence Genetic Test at DNA Labs UAE is 4400 AED. This investment includes the comprehensive analysis and detailed reporting necessary for understanding the potential impact of the RAPSN gene mutations. While the cost may seem significant, the value of the information it provides cannot be overstated, especially for families at risk of FADS.
Conclusion
For families facing the possibility of Fetal Akinesia Deformation Sequence, early genetic testing is crucial. The RAPSN Gene Fetal Akinesia Deformation Sequence Genetic Test offered by DNA Labs UAE provides a vital resource for those seeking answers. With a cost of 4400 AED, this test offers not just peace of mind but also a crucial step towards appropriate planning and management of the condition. For more information and to schedule a test, visit DNA Labs UAE.
