At DNA Labs UAE, we are committed to providing advanced genetic testing services to help individuals and families gain insights into their genetic makeup, and how it may affect their health. One such test we offer is for the FARS2 gene, associated with combined oxidative phosphorylation deficiency type 14. This condition is rare but can have significant implications for those affected and their families. Understanding the symptoms and getting tested can be crucial steps in managing and treating the condition effectively.
Symptoms of FARS2 Gene Mutation
The FARS2 gene plays a crucial role in mitochondrial function, specifically in protein synthesis within the mitochondria. Mutations in this gene can lead to a variety of symptoms, which may vary significantly among individuals. Some of the most common symptoms associated with combined oxidative phosphorylation deficiency type 14 include:
- Developmental delay and regression
- Seizures
- Muscle weakness and hypotonia (reduced muscle tone)
- Ataxia (lack of muscle coordination affecting speech, eye movements, and the ability to swallow)
- Optic atrophy, leading to vision loss
- Lactic acidosis, which can cause nausea, vomiting, severe breathing problems, and an irregular heartbeat in some cases
- Brain abnormalities, including leukodystrophy (a condition affecting the white matter of the brain)
It’s important to note that the presence and severity of these symptoms can vary widely among affected individuals. Some may experience mild symptoms, while others may face more severe challenges.
FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 Genetic Test
Understanding the genetic underpinnings of this condition is crucial for accurate diagnosis and management. At DNA Labs UAE, we offer a comprehensive genetic test for the FARS2 gene mutation. This test is designed to identify mutations in the FARS2 gene that are associated with combined oxidative phosphorylation deficiency type 14, providing valuable information for affected individuals and their healthcare providers.
The test involves a simple blood draw or cheek swab, after which the sample is analyzed in our state-of-the-art laboratory. Our team of genetic experts uses advanced sequencing technologies to accurately identify any mutations in the FARS2 gene.
The cost of the FARS2 gene combined oxidative phosphorylation deficiency type 14 genetic test is 4400 AED. While the cost may seem significant, the insights provided by this test can be invaluable in guiding treatment and management strategies for affected individuals.
Why Choose DNA Labs UAE?
At DNA Labs UAE, we are dedicated to providing high-quality genetic testing services that can make a real difference in people’s lives. Our team of genetic experts and state-of-the-art laboratory facilities ensure accurate and reliable test results. Furthermore, we offer comprehensive support throughout the testing process, from initial consultation to result interpretation, helping individuals and families understand their genetic health and make informed decisions.
For more information about the FARS2 gene combined oxidative phosphorylation deficiency type 14 genetic test, or to schedule a test, please visit our website at DNA Labs UAE.
Understanding your genetic health can be a powerful step towards taking control of your well-being. If you or a loved one are experiencing symptoms that may be linked to combined oxidative phosphorylation deficiency type 14, consider reaching out to DNA Labs UAE to learn more about how genetic testing can help.
