Understanding COA5 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 3
Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency type 3, caused by mutations in the COA5 gene, is a rare and severe condition that primarily affects infants. This genetic disorder disrupts the normal function of mitochondria, the energy-producing structures within cells, leading to a range of serious health issues, particularly affecting the heart and brain. Recognizing the symptoms early and undergoing genetic testing can be crucial for affected families. DNA Labs UAE offers a comprehensive genetic test for this condition at a cost of 4400 AED.
Signs and Symptoms
The symptoms of COA5 gene cardioencephalomyopathy can vary but typically manifest early in life. Key indicators include:
- Severe developmental delay
- Lactic acidosis
- Hypotonia (reduced muscle tone)
- Cardiomyopathy (disease of the heart muscle)
- Respiratory distress
- Seizures
- Failure to thrive
- Neurological regression
Due to the severity and rapid progression of these symptoms, early diagnosis and intervention are critical.
Genetic Testing for COA5 Gene Mutation
Genetic testing plays a pivotal role in diagnosing COA5 gene cardioencephalomyopathy. The test offered by DNA Labs UAE specifically looks for mutations in the COA5 gene that are known to cause this condition. By analyzing a small sample of blood or saliva, the test can confirm whether an individual has the genetic mutation, allowing for an accurate diagnosis.
This genetic test is particularly important for families with a history of the condition or those who have children exhibiting symptoms consistent with cytochrome c oxidase deficiency. It can also provide essential information for couples considering having children and wanting to understand their risk of passing on this genetic disorder.
Cost of the Test
The cost of the COA5 gene cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency type 3 genetic test is 4400 AED. While the cost may seem high, it is crucial to consider the benefits of early and accurate diagnosis. Identifying the condition early can lead to more effective management of symptoms and a better understanding of the prognosis.
Conclusion
COA5 gene cardioencephalomyopathy is a devastating condition that can lead to significant health challenges for affected infants. Recognizing the symptoms early and opting for genetic testing can provide families with the answers they need. DNA Labs UAE is committed to offering comprehensive and accurate genetic testing for this condition, helping to pave the way for better management and support for affected families. For more information on the genetic test and how to proceed, please visit our website.
