At DNA Labs UAE, we are dedicated to providing comprehensive genetic testing services that help in diagnosing a variety of genetic disorders, including those related to the EARS2 gene. The EARS2 gene is associated with Combined Oxidative Phosphorylation Deficiency Type 12, a rare but serious condition that affects multiple systems within the body. Understanding the symptoms associated with this genetic disorder is crucial for early diagnosis and management.
Symptoms of EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12
The EARS2 gene plays a significant role in mitochondrial function, which is essential for energy production within cells. Mutations in the EARS2 gene can lead to Combined Oxidative Phosphorylation Deficiency Type 12, a condition that presents a range of symptoms varying in severity among individuals. Recognizing these symptoms is the first step towards diagnosis and treatment.
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Neurological Symptoms: One of the most common manifestations of this condition involves the nervous system. Patients may experience developmental delay, seizures, hypotonia (decreased muscle tone), ataxia (lack of muscle coordination), and encephalopathy, a broad term for brain disease that alters brain function or structure.
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Vision and Hearing Impairments: Vision problems, including retinitis pigmentosa (a condition that affects the retina and causes loss of vision), and sensorineural hearing loss are also associated with this disorder.
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Lactic Acidosis: High levels of lactic acid in the bloodstream, a condition known as lactic acidosis, is another indicator of this deficiency. It can lead to symptoms such as nausea, vomiting, abdominal pain, and rapid breathing.
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Physical Growth Delay: Individuals with this condition may also experience growth delays, further emphasizing the importance of early detection and intervention.
Genetic Testing for EARS2 Gene Mutation
At DNA Labs UAE, we offer a specialized genetic test for the EARS2 gene mutation to confirm the diagnosis of Combined Oxidative Phosphorylation Deficiency Type 12. This test is crucial for individuals presenting symptoms associated with this condition or those with a family history of mitochondrial disorders. The test involves a simple and non-invasive procedure, ensuring a smooth experience for all our clients.
The cost of the EARS2 gene Combined Oxidative Phosphorylation Deficiency Type 12 genetic test is 4400 AED. While the price may seem significant, the value of obtaining a precise diagnosis cannot be overstated. Early detection and diagnosis allow for better management of the condition, potentially improving the quality of life for those affected.
For more information about the EARS2 gene Combined Oxidative Phosphorylation Deficiency Type 12 genetic test and to schedule your appointment, please visit our website at DNA Labs UAE.
Conclusion
Understanding the symptoms associated with the EARS2 gene mutation and Combined Oxidative Phosphorylation Deficiency Type 12 is crucial for early diagnosis and effective management of the condition. DNA Labs UAE is committed to providing our clients with accurate genetic testing services to aid in the diagnosis of this and other genetic disorders. If you or a loved one are experiencing symptoms related to this condition, consider scheduling a genetic test today. Early intervention can make a significant difference in managing the symptoms and improving the quality of life.
