Short Description

NGS genetic DNA test detecets for variant and mutation detection in NALCN gene for Neuroaxonal neurodegeneration, infantile, with facial dysmophism

PreTest Information

Clinical History of Patient who is going for NALCN Gene Neuroaxonal neurodegeneration, infantile, with facial dysmophism NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NALCN Gene Neuroaxonal neurodegeneration, infantile, with facial dysmophism NGS Genetic DNA Test gene NALCN

Detail Description

Understanding NALCN Gene Neuroaxonal Neurodegeneration, Infantile, with Facial Dysmorphism

Neuroaxonal neurodegeneration is a rare disorder that affects the nervous system and leads to the degeneration of nerve fibers. It is caused by mutations in the NALCN gene that provides instructions for creating a protein that helps regulate the flow of charged particles into cells. This disorder is characterized by developmental delay, facial dysmorphism, and a progressive decline in motor function. The NALCN gene neuroaxonal neurodegeneration, infantile, with facial dysmorphism is diagnosed through a genetic DNA test that costs INR 20,000.

Symptoms of NALCN Gene Neuroaxonal Neurodegeneration, Infantile, with Facial Dysmorphism

The symptoms of NALCN gene neuroaxonal neurodegeneration, infantile, with facial dysmorphism typically appear in early infancy. The most common symptoms include:

• Developmental delay
• Facial dysmorphism, including a small head size and a flattened bridge of the nose
• Weak muscle tone
• Difficulty with movement, including trouble sitting, standing, and walking
• Seizures
• Vision problems
• Breathing difficulties

Diagnosing NALCN Gene Neuroaxonal Neurodegeneration, Infantile, with Facial Dysmorphism

The diagnosis of NALCN gene neuroaxonal neurodegeneration, infantile, with facial dysmorphism is typically done through genetic testing. The most common test used is Next Generation Sequencing (NGS) Genetic DNA Test. This test looks for mutations in the NALCN gene and can confirm a diagnosis of this disorder. The cost of this test is INR 20,000.

Treatment and Management of NALCN Gene Neuroaxonal Neurodegeneration, Infantile, with Facial Dysmorphism

Unfortunately, there is no cure for NALCN gene neuroaxonal neurodegeneration, infantile, with facial dysmorphism. Treatment is focused on managing symptoms and providing supportive care. This may include physical therapy, speech therapy, and medication to control seizures. Individuals with this disorder will require ongoing care from a team of healthcare professionals.

Conclusion

NALCN gene neuroaxonal neurodegeneration, infantile, with facial dysmorphism is a rare disorder that affects the nervous system and leads to the degeneration of nerve fibers. The symptoms typically appear in early infancy and include developmental delay, facial dysmorphism, weak muscle tone, and difficulty with movement. Diagnosis is typically done through genetic testing, and treatment is focused on managing symptoms and providing supportive care. If you suspect your child may have this disorder, it is important to speak with your healthcare provider to discuss testing and management options.

At DNA Labs India, we offer a range of genetic testing services, including the NGS Genetic DNA Test for NALCN gene neuroaxonal neurodegeneration, infantile, with facial dysmorphism. Our team of experts can provide you with the information and support you need to make informed healthcare decisions. Contact us today to learn more.