Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 2 is a rare genetic condition that affects infants, leading to severe health complications and often results in fatality. This condition is caused by mutations in the COX15 gene, which plays a crucial role in the assembly of cytochrome c oxidase, an essential component of the mitochondrial respiratory chain. Understanding the symptoms of this genetic disorder is vital for early diagnosis and management, although treatment options are currently limited.
The COX15 gene cardioencephalomyopathy manifests through a variety of symptoms, which can vary significantly among affected infants. However, common signs include hypotonia (decreased muscle tone), lactic acidosis (a buildup of lactate in the body), and hypertrophic cardiomyopathy (thickening of the heart muscle). Neurological issues, such as seizures, developmental delay, and microcephaly (a smaller than normal head), are also frequently observed. Additionally, affected infants may experience feeding difficulties, failure to thrive, and respiratory problems. The severity and combination of these symptoms can lead to a fatal outcome, often within the first few months of life.
Given the severity of the condition, early and accurate diagnosis is crucial. DNA Labs UAE offers a genetic test specifically designed to identify mutations in the COX15 gene, enabling the diagnosis of Cardioencephalomyopathy Fatal Infantile due to Cytochrome C Oxidase Deficiency Type 2. This test is a valuable tool for families with a history of the condition or those who have an infant displaying the symptoms associated with it.
The cost of the COX15 gene cardioencephalomyopathy fatal infantile due to Cytochrome C Oxidase Deficiency Type 2 genetic test is 4400 AED. While the price may seem significant, the information provided by this test can be invaluable for affected families. It not only facilitates an accurate diagnosis but also aids in the management of the condition, allowing for the implementation of supportive care measures that can improve the quality of life for affected infants.
For more information about the test and to arrange for testing, please visit DNA Labs UAE. Our dedicated team of professionals is committed to providing comprehensive support and guidance throughout the testing process, ensuring that families receive the care and information they need during this challenging time.
Understanding the symptoms and genetic basis of Cardioencephalomyopathy Fatal Infantile due to Cytochrome C Oxidase Deficiency Type 2 is the first step towards managing this condition. While the journey may be difficult, advancements in genetic testing offer hope for early diagnosis and the potential for better management of symptoms. DNA Labs UAE is at the forefront of these efforts, offering state-of-the-art genetic testing services to help families navigate the complexities of rare genetic disorders.
