Understanding the nuances of genetic conditions is pivotal in the realm of medical science, especially when it comes to neuropathies that affect the sensory functions of the human body. One such condition is the Hereditary Sensory Neuropathy Type 1D (HSN1D), a rare disorder that significantly impacts the sensory nerves. It is primarily caused by mutations in the ATL1 gene. DNA Labs UAE, a leading facility in genetic testing, offers a comprehensive ATL1 Gene Neuropathy Hereditary Sensory Type 1D Genetic Test, designed to diagnose this condition accurately. This article aims to shed light on the symptoms associated with this genetic disorder and provide details about the genetic test, including its cost.
Symptoms of ATL1 Gene Neuropathy Hereditary Sensory Type 1D
The symptoms of HSN1D can vary significantly among affected individuals, but they typically revolve around sensory dysfunctions. The most common signs and symptoms include:
- Reduced sensation to pain and temperature changes, which may lead to unnoticed injuries.
- Weakness in the muscles, particularly those in the feet and hands, leading to difficulties in grasping objects or walking.
- Development of foot deformities such as high arches or hammertoes due to muscle weakness and imbalances.
- Loss of reflexes, especially in the ankles, which is an early sign of the disease progression.
- Chronic ulcers or infections in the feet due to the lack of sensation and unnoticed injuries.
It’s important to note that the onset of symptoms typically begins in late childhood or early adulthood. However, the severity and progression of the symptoms can vary. Early diagnosis and management are crucial in preventing complications and improving the quality of life for those affected.
ATL1 Gene Neuropathy Hereditary Sensory Type 1D Genetic Test
Understanding the genetic basis of HSN1D is vital for accurate diagnosis and management. DNA Labs UAE offers a specialized genetic test for this purpose. The test specifically looks for mutations in the ATL1 gene, which are known to cause HSN1D. The testing process involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of genetic mutations.
The genetic test not only aids in confirming the diagnosis of HSN1D but also helps in identifying carriers of the gene mutation who may be at risk of passing the condition to their offspring. This information is crucial for family planning and for understanding the risk for future generations.
Cost of the Test
The cost of the ATL1 Gene Neuropathy Hereditary Sensory Type 1D Genetic Test at DNA Labs UAE is 4400 AED. This price includes the cost of sample collection, genetic analysis, and a comprehensive report that details the findings. The report is instrumental for healthcare providers in devising an effective management plan for the patient.
Conclusion
HSN1D is a challenging condition that significantly impacts the lives of those affected. Early diagnosis through genetic testing, such as the ATL1 Gene Neuropathy Hereditary Sensory Type 1D Genetic Test offered by DNA Labs UAE, plays a critical role in managing the condition effectively. By understanding the symptoms and undergoing genetic testing, individuals can take proactive steps towards managing their health and mitigating the impact of this rare neuropathy.
For more information about the test and to schedule an appointment, visit DNA Labs UAE.
