Cox15 Gene Cardioencephalomyopathy Fatal Infantile Due to Cytochrome C Oxidase Deficiency Type 2 NGS Genetic DNA Test
Introduction
The Cox15 Gene Cardioencephalomyopathy Fatal Infantile NGS Genetic DNA Test is a groundbreaking diagnostic tool designed to identify cytochrome c oxidase deficiency type 2, a severe genetic disorder affecting infants. This condition can lead to critical cardiovascular and neurological complications. Early detection through this test can significantly improve management and outcomes for affected infants.
What the Test Measures
This test analyzes the COX15 gene, which plays a key role in the production of cytochrome c oxidase, an essential enzyme in the mitochondrial respiratory chain. By assessing variations in this gene, the test can determine the presence of mutations that may lead to cytochrome c oxidase deficiency.
Who Should Consider This Test?
Parents or guardians of infants exhibiting symptoms such as:
- Severe developmental delays
- Cardiomyopathy
- Respiratory distress
- Seizures
- Hypotonia (decreased muscle tone)
Additionally, families with a history of genetic disorders or those at risk may also consider this test.
Benefits of Taking the Test
Undergoing the Cox15 Gene Cardioencephalomyopathy test offers several benefits:
- Early diagnosis of potentially life-threatening conditions.
- Guidance for treatment options and management strategies.
- Informed family planning for future pregnancies.
- Access to genetic counseling and support services.
Understanding Your Results
Results from the Cox15 Gene test will indicate whether mutations are present in the COX15 gene. A positive result may suggest a higher risk of developing cytochrome c oxidase deficiency, while a negative result can provide reassurance. It is essential to discuss results with a healthcare professional for accurate interpretation and guidance on next steps.
Test Details
Test Name | Price (NGN) |
---|---|
COX15 Gene Cardioencephalomyopathy Fatal Infantile NGS Genetic DNA Test | Discount Price: 400000 NGN Regular Price: 560000 NGN |
Book the Test Today!
Don’t wait for symptoms to worsen. Book the Cox15 Gene Cardioencephalomyopathy Fatal Infantile NGS Genetic DNA Test today to ensure your child’s health and well-being. For inquiries or to schedule an appointment, please call or WhatsApp us at +2348077798758.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-test Instructions: A clinical history of the patient is necessary before the test. A genetic counseling session is recommended to draw a pedigree chart of family members affected by COX15 Gene Cardioencephalomyopathy.
This test falls under the specialty of cardiology and genetics, utilizing NGS technology to provide accurate and reliable results for cardiovascular pneumology disorders.