Genetic testing has become a cornerstone in diagnosing and understanding various hereditary conditions. Among these, neuropathies, which are disorders affecting the peripheral nerves, represent a significant category. One such condition is caused by mutations in the BSCL2 gene, leading to a specific type of neuropathy known as Distal Hereditary Motor Type 5A. DNA Labs UAE offers a comprehensive genetic test for this condition, providing essential insights for affected individuals and their families. This article delves into the symptoms associated with BSCL2 Gene Neuropathy Distal Hereditary Motor Type 5A and outlines the details of the genetic test available, including its cost.
Symptoms of BSCL2 Gene Neuropathy Distal Hereditary Motor Type 5A
The symptoms of BSCL2 Gene Neuropathy Distal Hereditary Motor Type 5A can vary widely among affected individuals, but they generally involve progressive weakness and atrophy of muscles in the distal parts of the body, such as the hands and feet. This condition typically manifests in late childhood or early adulthood and progresses over time. Some of the key symptoms include:
- Weakness in the hands and feet, which may progress to affect the arms and legs
- Difficulty with fine motor skills, such as buttoning clothes or writing
- Loss of muscle mass in the affected areas
- Foot deformities, such as high arches or hammertoes
- Decreased ability to feel vibrations at the extremities
- Difficulty walking or a change in gait
It is important to note that the severity and progression of these symptoms can vary. Some individuals may experience mild symptoms that stabilize after a period, while others may face significant mobility challenges over time.
BSCL2 Gene Neuropathy Distal Hereditary Motor Type 5A Genetic Test
DNA Labs UAE offers a genetic test specifically designed to diagnose BSCL2 Gene Neuropathy Distal Hereditary Motor Type 5A. This test is critical for confirming the diagnosis, understanding the progression of the condition, and making informed decisions about management and treatment. The test involves analyzing the BSCL2 gene for mutations known to cause the condition. It is a non-invasive test, requiring only a blood sample from the individual.
The cost of the BSCL2 Gene Neuropathy Distal Hereditary Motor Type 5A Genetic Test is 4400 AED. This price includes the full analysis and a comprehensive report detailing the findings. Individuals considering this test should consult with a genetic counselor or healthcare provider to discuss the implications of the results and the next steps in managing the condition.
For more information or to schedule a test, interested individuals can visit DNA Labs UAE. The website provides detailed information on the test, including preparation, what to expect during the process, and how the results are delivered.
Understanding the genetic basis of conditions like BSCL2 Gene Neuropathy Distal Hereditary Motor Type 5A is crucial for affected individuals and their families. It not only aids in diagnosis and management but also provides valuable information for future planning and support. DNA Labs UAE is committed to offering state-of-the-art genetic testing services to help individuals navigate the complexities of genetic conditions and improve their quality of life.