MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 NGS Genetic DNA Test
Introduction to the Test
The MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 NGS Genetic DNA Test is an advanced diagnostic tool designed to identify genetic mutations associated with oxidative phosphorylation deficiencies. These deficiencies can lead to serious metabolic disorders affecting energy production in the body. Understanding the genetic basis of these disorders is crucial for effective management and treatment.
What the Test Measures
This genetic test specifically analyzes the MRPS16 gene to detect mutations that may cause Combined Oxidative Phosphorylation Deficiency Type 2. By utilizing Next Generation Sequencing (NGS) technology, the test provides comprehensive insights into the patient’s genetic makeup, enabling healthcare providers to make informed decisions regarding treatment options.
Who Should Consider This Test?
Individuals with a family history of metabolic disorders, especially those with symptoms such as:
- Unexplained muscle weakness
- Neurological issues
- Developmental delays
- Fatigue
- Seizures
are encouraged to consider this test. Additionally, those who have undergone previous tests indicating mitochondrial dysfunction may also benefit from this genetic assessment.
Benefits of Taking the Test
- Accurate identification of genetic mutations related to metabolic disorders.
- Guidance for personalized treatment plans based on genetic findings.
- Informed family planning decisions for at-risk individuals.
- Access to genetic counseling for better understanding of results and implications.
Understanding Your Results
Upon completion of the test, results will be analyzed and interpreted by genetic specialists. Patients will receive a detailed report outlining any identified mutations and their potential implications for health. This information is vital for guiding treatment options and providing support for affected individuals and their families.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking Your Test
Ready to take the next step in understanding your genetic health? Book the MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 NGS Genetic DNA Test today! Contact us at +2348077798758 via call or WhatsApp to schedule your appointment.
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 required, along with a genetic counseling session to draw a pedigree chart of family members affected with Combined Oxidative Phosphorylation Deficiency Type 2.
This test is conducted under the specialty of General Physician, within the Genetics department utilizing NGS Technology, focused on diagnosing Metabolic Disorders.
