Distal Hereditary Motor Neuronopathy Type VI (dHMN-VI) is a rare genetic disorder that affects the peripheral nervous system, specifically targeting the motor neurons responsible for muscle control and movement. This condition is caused by mutations in the IGHMBP2 gene, which plays a crucial role in the development and maintenance of nerve cells. DNA Labs UAE offers a comprehensive genetic test for diagnosing this condition, providing families and individuals with crucial information for managing the disorder. The cost of the test is 4400 AED.
The symptoms of IGHMBP2 gene neuronopathy, or dHMN-VI, can vary significantly among affected individuals but typically revolve around the progressive weakness and wasting of the distal muscles, particularly in the lower limbs. Recognizing the symptoms early on can be critical for timely intervention and management of the condition.
Symptoms of IGHMBP2 Gene Neuronopathy
The symptoms associated with IGHMBP2 gene neuronopathy can manifest in early childhood but may also appear in late adolescence or early adulthood. These symptoms include:
- Weakness in the feet and hands, which can progress to more proximal muscles over time
- Difficulty walking or running, often characterized by a high-stepped gait due to foot drop
- Loss of muscle mass in the affected limbs, leading to physical disability
- Decreased reflexes, especially in the ankles
- Sensory loss in the extremities, although this is less common
- Respiratory problems in severe cases, due to the involvement of respiratory muscles
Early diagnosis through genetic testing is essential for managing the symptoms effectively and improving the quality of life for those affected. DNA Labs UAE’s IGHMBP2 gene neuronopathy test is a vital tool in this process.
Understanding the Genetic Test
The genetic test for IGHMBP2 gene neuronopathy offered by DNA Labs UAE is a comprehensive screening that identifies mutations in the IGHMBP2 gene. This test is performed using a blood sample, making it a non-invasive procedure. The process involves the extraction of DNA from the sample, followed by sequencing to detect any mutations that may lead to dHMN-VI.
Given the complexity of the condition and the need for precise diagnosis, the cost of the test is set at 4400 AED. This price reflects the advanced technology and expertise required to accurately identify mutations in the IGHMBP2 gene.
For more information about the IGHMBP2 gene neuronopathy distal hereditary motor type 6 genetic test and to schedule a test, please visit DNA Labs UAE.
Conclusion
IGHMBP2 gene neuronopathy is a challenging condition, both in terms of diagnosis and management. However, with advances in genetic testing, individuals and families affected by this disorder have a powerful tool at their disposal. The genetic test offered by DNA Labs UAE provides crucial insights into the condition, enabling targeted interventions and support. While the test cost may seem significant, the value it provides in terms of diagnosis and subsequent management of the condition is immeasurable.
