Understanding genetic conditions is crucial for early diagnosis and effective treatment. Among these conditions, Combined Oxidative Phosphorylation Deficiency Type 22, linked to the ATP5F1A gene, is a rare but significant disorder that affects multiple body systems. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22 Genetic Test. This test is instrumental in diagnosing this complex condition, offering hope and direction for affected individuals and their families.
Symptoms of ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22
Combined Oxidative Phosphorylation Deficiency Type 22 is a disorder that impacts the body’s ability to generate energy at the cellular level. It is caused by mutations in the ATP5F1A gene, which plays a critical role in the normal functioning of mitochondria – the powerhouses of the cell. The symptoms of this condition can vary widely among individuals but typically include a combination of the following:
- Neurological Impairment: This may manifest as developmental delay, seizures, muscle weakness (hypotonia), and ataxia, which is a lack of muscle coordination affecting speech, eye movements, and the ability to swallow.
- Cardiac Issues: Heart problems, including cardiomyopathy (a condition that affects the heart muscle, making it harder for the heart to pump blood to the rest of the body), can occur.
- Metabolic Complications: Individuals may experience lactic acidosis, a buildup of lactic acid in the body more quickly than it can be removed, leading to symptoms such as nausea, vomiting, abdominal pain, and rapid breathing.
- Failure to Thrive: Affected infants may have difficulty gaining weight and growing at the expected rate.
- Respiratory Problems: Breathing difficulties due to both muscular weakness and the potential development of lung conditions.
Early diagnosis is critical for managing symptoms and improving the quality of life for those affected by Combined Oxidative Phosphorylation Deficiency Type 22. DNA Labs UAE’s genetic testing service for this condition is a vital tool in achieving this goal.
ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22 Genetic Test
DNA Labs UAE offers a specialized genetic test designed to identify mutations in the ATP5F1A gene. This test is crucial for confirming a diagnosis of Combined Oxidative Phosphorylation Deficiency Type 22 and is recommended for individuals presenting with the symptoms described above or those with a family history of the condition.
The test process is straightforward and involves collecting a small sample of blood or saliva from the individual. This sample is then analyzed in our state-of-the-art laboratory, where our team of experts uses advanced genetic sequencing technologies to identify any mutations in the ATP5F1A gene.
Understanding the genetic basis of this condition not only aids in diagnosis but also helps in guiding treatment decisions and predicting the course of the disease. It also provides valuable information for family planning and the assessment of risk in future pregnancies.
Test Cost
The cost of the ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22 Genetic Test at DNA Labs UAE is 4400 AED. This price reflects our commitment to providing accessible, high-quality genetic testing services. While the cost may seem significant, the value of the information gained from this test cannot be overstated, offering affected individuals and their families a path towards understanding and managing the condition.
For more information about this test and to schedule an appointment, please visit our website at DNA Labs UAE.
In conclusion, the ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22 Genetic Test is a crucial tool in diagnosing and understanding this complex condition. DNA Labs UAE is dedicated to providing this and other genetic testing services to help individuals and families navigate the challenges of genetic disorders. With our expert team, advanced technologies, and commitment to quality, we are your partners in health and wellbeing.
