POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A NGS Genetic DNA Test
Understanding Mitochondrial DNA Depletion Syndrome
Mitochondrial DNA depletion syndrome type 4A is a rare, inherited neurological disorder caused by mutations in the POLG gene. This gene encodes the catalytic subunit of DNA polymerase gamma, the enzyme responsible for replicating mitochondrial DNA. When this enzyme malfunctions, it leads to reduced mitochondrial DNA content in affected tissues, particularly the brain and liver, resulting in progressive neurological deterioration and multi-system involvement.
What This Test Measures and Detects
Our advanced NGS Genetic DNA Test specifically analyzes the POLG gene to identify pathogenic variants associated with mitochondrial DNA depletion syndrome type 4A. The test provides comprehensive coverage of:
- Complete sequencing of the POLG gene coding regions
- Detection of point mutations, small insertions, and deletions
- Identification of known pathogenic variants
- Assessment of novel variants with clinical significance
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
- Progressive neurological decline in infancy or childhood
- Intractable seizures and epileptic encephalopathy
- Liver dysfunction or failure
- Developmental delays and regression
- Hypotonia (low muscle tone)
- Family history of mitochondrial disorders
- Unexplained multi-system involvement
Benefits of Genetic Testing
Early and accurate diagnosis through POLG gene testing offers numerous advantages:
- Precise Diagnosis: Confirms or rules out mitochondrial DNA depletion syndrome type 4A
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and outcomes
- Clinical Management: Guides appropriate medical care and monitoring
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic POLG gene mutations associated with mitochondrial DNA depletion syndrome type 4A. Our genetic counselors will provide guidance on next steps and management options.
- Negative Result: Suggests that no known pathogenic mutations were detected in the POLG gene. However, this does not completely rule out mitochondrial disorders, as other genes may be involved.
- Variant of Uncertain Significance: Some genetic changes may have unknown clinical implications. Our team will provide ongoing monitoring and reclassification as new evidence emerges.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members
- Informed consent for genetic testing
Nationwide Accessibility
We have testing facilities across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and neurologists ensures comprehensive care regardless of your location.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about neurological symptoms delay proper diagnosis and treatment. Our POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A NGS Genetic DNA Test provides the clarity needed for effective medical management. With our discounted price of $500 USD and comprehensive testing approach, advanced genetic diagnostics are now accessible to patients nationwide.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to guide you through the testing process and provide the answers you need for better health outcomes.
