Understanding the C12ORF65 Gene and SPG55 Genetic Test
The C12ORF65 gene is a critical focus in genetic research, particularly for its association with Spastic Paraplegia 55 (SPG55), a complex neurodegenerative disorder. Understanding the symptoms associated with mutations in the C12ORF65 gene is crucial for early diagnosis and management of the condition. DNA Labs UAE is at the forefront of offering comprehensive genetic testing services, including the SPG55 Genetic Test, to help identify mutations in the C12ORF65 gene. This article delves into the symptoms of SPG55 and provides detailed information on the genetic test available at DNA Labs UAE.
Symptoms of C12ORF65 Gene Mutation (SPG55)
Mutations in the C12ORF65 gene lead to a variety of symptoms, primarily affecting the nervous system. The hallmark of SPG55 is progressive spasticity and weakness in the lower limbs, but it encompasses a broader spectrum of neurological symptoms:
- Motor Function Impairment: Individuals experience progressive difficulty in walking, coordination, and balance, often leading to an abnormal gait.
- Peripheral Neuropathy: Sensory impairments, including numbness and tingling in the extremities, are common.
- Cognitive Decline: Some affected individuals may experience mild to moderate cognitive impairments, including problems with memory and executive functioning.
- Vision Problems: Optic atrophy and decreased visual acuity can occur, affecting the individual’s ability to see clearly.
- Hearing Loss: Progressive hearing impairment is also a possible symptom associated with this genetic mutation.
It is important to note that the severity and combination of symptoms can vary significantly among individuals, even within the same family. Early detection through genetic testing can aid in managing the condition more effectively.
SPG55 Genetic Test at DNA Labs UAE
DNA Labs UAE offers the SPG55 Genetic Test, specifically designed to detect mutations in the C12ORF65 gene. This test is a crucial step in diagnosing SPG55, enabling healthcare providers to develop a tailored management plan for affected individuals. The process involves collecting a DNA sample, usually through a blood draw or saliva collection, which is then analyzed in our state-of-the-art laboratory.
The cost of the SPG55 Genetic Test at DNA Labs UAE is 4400 AED. This investment includes a comprehensive analysis and a detailed report, which will be reviewed with you by our genetic counselors. They will help you understand the results and discuss the next steps in management or treatment options.
For more information about the SPG55 Genetic Test and to schedule your appointment, please visit our website at DNA Labs UAE.
Conclusion
The C12ORF65 gene plays a significant role in neurological health, and mutations in this gene can lead to SPG55, a condition characterized by a range of symptoms affecting mobility, sensory functions, and cognitive abilities. Early detection through genetic testing, such as the SPG55 Genetic Test offered by DNA Labs UAE, is essential for managing the condition effectively. Understanding the symptoms and availing of the genetic test can make a substantial difference in the quality of life for affected individuals and their families.
