Mitochondrial Mutation Detection Comprehensive Panel Test
Introduction
The Mitochondrial Mutation Detection Comprehensive Panel Test is a crucial diagnostic tool designed to identify genetic mutations in mitochondrial DNA that are linked to various neurological disorders and genetic diseases. Mitochondria are the powerhouse of the cell, and mutations in their DNA can lead to significant health issues. Early detection through this test can aid in timely intervention and management of these conditions.
What the Test Measures
This comprehensive panel test measures and detects mutations in several key mitochondrial genes, including:
- ND1
- ND4
- ND5
- ND6
- TL1
- MCTYB1
- ATP6
- ATP8
These genes are critical for mitochondrial function and energy production, and mutations can lead to a variety of neurological and systemic disorders.
Who Should Consider This Test?
This test is recommended for individuals who exhibit symptoms of mitochondrial dysfunction or have a family history of genetic diseases. Symptoms may include:
- Muscle weakness
- Neurological issues
- Developmental delays in children
- Unexplained metabolic disorders
If you are at risk due to family history or presenting symptoms, consulting with a neurologist or pediatrician about this test is advisable.
Benefits of Taking the Test
- Early detection of genetic mutations can lead to better management of health issues.
- Provides critical information for treatment planning and family counseling.
- Helps in understanding the cause of unexplained symptoms.
- Facilitates access to specialized care and resources.
Understanding Your Results
Results from the Mitochondrial Mutation Detection Comprehensive Panel Test will indicate the presence or absence of specific mutations. A genetic counselor or healthcare provider will help interpret these results and discuss potential implications for treatment and management.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
Mitochondrial Mutation Detection Comprehensive Panel Test | 600,000 NGN | 900,000 NGN |
How to Book the Test
To book the Mitochondrial Mutation Detection Comprehensive Panel Test, please contact us at +2348077798758. Ensure you have duly filled the Genomics Clinical Information Requisition Form (Form 20) before the test.
Sample Collection Information
Sample type required for this test is 4 mL (2 mL minimum) of whole blood in a Lavender top (EDTA) tube. The sample must be shipped refrigerated and should not be frozen. Proper documentation is essential for processing.
Turnaround Time
Samples should be submitted by 9 AM on Mondays, and results will be available by Friday.
For any inquiries or to schedule your test, please reach out to us today!