Understanding the complexities of genetic conditions is crucial for early diagnosis and management. One such rare but significant condition is Neuroaxonal Neurodegeneration Infantile with Facial Dysmorphism (NANIFD), caused by mutations in the NALCN gene. This condition presents with a range of symptoms that can significantly impact the quality of life from a very young age. DNA Labs UAE offers a comprehensive genetic test for this condition, providing families with crucial information for managing and understanding this rare disorder.
Symptoms of NALCN Gene Neuroaxonal Neurodegeneration Infantile with Facial Dysmorphism
NANIFD is characterized by a spectrum of neurological and physical manifestations. The symptoms often appear in infancy, making early diagnosis and intervention possible. The most common symptoms include:
- Severe developmental delay: Children with NANIFD often experience significant delays in reaching developmental milestones such as sitting, crawling, or walking.
- Muscle hypotonia and weakness: Low muscle tone and weakness are prevalent, making it difficult for affected infants to maintain posture and perform movements.
- Facial dysmorphism: Distinctive facial features may include a small head size (microcephaly), a short nose with a broad tip, wide-set eyes (hypertelorism), and a thin upper lip.
- Neuroaxonal dystrophy: This involves the abnormal accumulation of substances within nerve axons, leading to neurodegeneration.
- Respiratory problems: Breathing difficulties are common, often requiring medical support.
- Seizures: Many children with NANIFD experience seizures, which can vary in frequency and severity.
These symptoms are indicative of a severe neurodegenerative condition that affects not only the child’s development but also their overall health and well-being. Early diagnosis through genetic testing is essential for managing the symptoms and providing the best possible care.
Genetic Test for NALCN Gene Neuroaxonal Neurodegeneration Infantile with Facial Dysmorphism
DNA Labs UAE offers a specialized genetic test for diagnosing NANIFD. This test specifically looks for mutations in the NALCN gene, which are responsible for the condition. Genetic testing is a critical step in confirming the diagnosis, enabling targeted management strategies, and providing families with the information they need to understand the condition better.
The test is performed using a simple blood sample, making it minimally invasive. Once the sample is collected, it is analyzed in our state-of-the-art laboratory, where our team of experts uses advanced genetic sequencing techniques to identify any mutations in the NALCN gene.
The cost of the genetic test for NANIFD at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis necessary to provide a definitive diagnosis, offering families peace of mind and the ability to plan for the future.
For more information about the NALCN gene neuroaxonal neurodegeneration infantile with facial dysmorphism genetic test and to schedule an appointment, please visit our website at DNA Labs UAE.
Early diagnosis and understanding of NANIFD can significantly impact the management of the condition. With the support of DNA Labs UAE, families can gain access to the information and resources they need to navigate the challenges of this rare genetic disorder.
