DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of services designed to provide individuals with valuable insights into their genetic makeup. Among the various tests provided, the SFXN4 Gene Combined Oxidative Phosphorylation Deficiency Type 18 Genetic Test stands out due to its significance in diagnosing a rare but serious condition. This test, priced at 4400 AED, is crucial for individuals exhibiting symptoms associated with this genetic disorder or those with a family history of similar conditions.
Symptoms of SFXN4 Gene Combined Oxidative Phosphorylation Deficiency Type 18
Combined Oxidative Phosphorylation Deficiency 18 (COXPD18) caused by mutations in the SFXN4 gene is a rare condition that affects various systems in the body. Symptoms can vary widely among individuals but often include the following:
- Neurological Impairment: Patients may experience developmental delay, intellectual disability, seizures, and muscle weakness. Neurological symptoms are often among the first signs of the disorder.
- Metabolic Complications: This condition can lead to metabolic acidosis, where the body produces too much acid, or it cannot remove enough acid. This imbalance can cause nausea, vomiting, and rapid breathing.
- Cardiomyopathy: An enlarged and weakened heart muscle is another symptom that some individuals may face, leading to difficulties in pumping blood efficiently throughout the body.
- Hearing Loss: Sensorineural hearing loss is also associated with this genetic disorder, affecting the inner ear or the nerve pathways from the inner ear to the brain.
- Lactic Acidosis: An accumulation of lactic acid in the body more than it can remove, leading to symptoms such as rapid breathing, abdominal pain, and muscle weakness.
- Failure to Thrive: Infants with this condition may experience a failure to gain weight and grow at the expected rate for their age.
It’s important to note that the presence and severity of these symptoms can vary greatly among affected individuals. Some may have mild symptoms, while others may experience more severe manifestations of the disorder.
Understanding the Genetic Test
The SFXN4 Gene Combined Oxidative Phosphorylation Deficiency Type 18 Genetic Test offered by DNA Labs UAE is a specialized diagnostic tool designed to detect mutations in the SFXN4 gene, which are responsible for the condition. This test is not only crucial for diagnosing the disorder but also for understanding its severity, potential progression, and informing treatment options.
For those concerned about the symptoms mentioned or who have a family history of the disorder, undergoing this genetic test can provide crucial insights into their health. Early diagnosis through genetic testing can significantly impact the management of the condition, allowing for tailored treatments and interventions that can improve quality of life.
Test Cost and Additional Information
The cost of the SFXN4 Gene Combined Oxidative Phosphorylation Deficiency Type 18 Genetic Test is 4400 AED. This price reflects the comprehensive nature of the test, including the detailed analysis and reporting provided by DNA Labs UAE’s team of genetic experts.
For more information about the test, including how to schedule an appointment and prepare for your visit, please visit DNA Labs UAE. Here, you’ll find additional resources about this condition, the testing process, and how genetic testing can benefit you and your family.
Understanding your genetic health is crucial in preventing and managing genetic disorders. With the advancements in genetic testing offered by DNA Labs UAE, individuals now have access to vital information that can help them make informed decisions about their health and future.
