Understanding the C12ORF65 Gene and Its Implications
Genetic testing has become a cornerstone in the diagnosis and understanding of various inherited disorders. Among these, the C12ORF65 gene plays a critical role in mitochondrial function. Mutations in this gene can lead to Combined Oxidative Phosphorylation Deficiency Type 7, a rare but serious condition that affects multiple systems in the body. At DNA Labs UAE, we offer a comprehensive genetic test to identify mutations in the C12ORF65 gene, providing crucial information for diagnosis and management of this condition.
Symptoms of Combined Oxidative Phosphorylation Deficiency Type 7
Individuals with mutations in the C12ORF65 gene may exhibit a wide range of symptoms, varying in severity. These symptoms are primarily due to the impaired function of mitochondria, the powerhouses of the cell, which leads to insufficient energy production. Key symptoms include:
- Neurological impairment, including developmental delay and intellectual disability.
- Muscle weakness and hypotonia, affecting motor skills and mobility.
- Visual and hearing impairments, which may progress over time.
- Lactic acidosis, a buildup of lactic acid in the body, leading to nausea, vomiting, and rapid breathing.
- Seizures, which can vary in frequency and severity.
- Feeding difficulties in infants, leading to failure to thrive.
It is crucial to recognize that the presentation of symptoms can vary widely among affected individuals. Some may exhibit mild symptoms, while others may face life-threatening complications.
The Importance of Genetic Testing
Genetic testing for mutations in the C12ORF65 gene is vital for several reasons. Firstly, it can provide a definitive diagnosis, distinguishing Combined Oxidative Phosphorylation Deficiency Type 7 from other conditions with similar symptoms. Secondly, it allows for better understanding and management of the disease, guiding treatment options and interventions. Finally, genetic testing can offer valuable information for family planning and the assessment of risk in future pregnancies.
Genetic Test at DNA Labs UAE
At DNA Labs UAE, we offer the C12ORF65 Gene Combined Oxidative Phosphorylation Deficiency Type 7 Genetic Test at a cost of 4400 AED. Our state-of-the-art laboratory is equipped with the latest technology to ensure accurate and reliable results. Our team of genetic experts is dedicated to providing comprehensive support throughout the testing process, from initial consultation to result interpretation and counseling.
For more information or to schedule a test, please visit our website:
C12ORF65 Gene Test at DNA Labs UAE
Conclusion
Understanding the genetic basis of Combined Oxidative Phosphorylation Deficiency Type 7 is essential for effective management and care of affected individuals. With advancements in genetic testing, identifying mutations in the C12ORF65 gene can lead to early diagnosis and intervention, significantly improving the quality of life for those affected. DNA Labs UAE is committed to providing accessible and comprehensive genetic testing services to help individuals and families navigate the complexities of genetic disorders.
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