COA5 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 3 NGS Genetic DNA Test
The COA5 Gene Cardioencephalomyopathy Fatal Infantile NGS Genetic DNA Test is a pivotal diagnostic tool for identifying cytochrome c oxidase deficiency type 3, a severe genetic disorder affecting infants. This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the COA5 gene, which plays a crucial role in mitochondrial function. Early diagnosis through this test can significantly impact treatment decisions and patient outcomes.
What the Test Measures/Detects
This genetic test measures mutations in the COA5 gene, which are associated with fatal infantile cardioencephalomyopathy. By detecting these mutations, healthcare providers can better understand the genetic basis of the disorder and tailor treatment plans accordingly.
Who Should Consider This Test
Parents or guardians of infants exhibiting symptoms such as:
- Severe muscle weakness
- Cardiovascular issues
- Neurological abnormalities
- Developmental delays
Additionally, individuals with a family history of cardiovascular pneumology disorders should consider this test for early detection and intervention.
Benefits of Taking the Test
- Early diagnosis of genetic disorders
- Informed decision-making regarding treatment options
- Potential for preventive measures in at-risk family members
- Access to specialized care from cardiologists and geneticists
Understanding Your Results
Results from the COA5 Gene Cardioencephalomyopathy test will be interpreted by specialists in genetics and cardiology. A positive result indicates the presence of a mutation in the COA5 gene, while a negative result suggests no detectable mutations. It is essential to discuss the implications of the results with a healthcare provider to understand the next steps.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Booking the Test
To book the COA5 Gene Cardioencephalomyopathy Fatal Infantile NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and any questions you may have.
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card. Before the test, a clinical history of the patient and a genetic counseling session to create a pedigree chart of affected family members is recommended.
Take the first step towards understanding your child’s health by booking the COA5 Gene Cardioencephalomyopathy Fatal Infantile NGS Genetic DNA Test today!
