POLG Gene Alpers Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The POLG Gene Alpers Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the POLG gene, which encodes the catalytic subunit of DNA polymerase gamma. This enzyme plays a critical role in mitochondrial DNA replication and repair, making POLG mutations a primary cause of mitochondrial disorders including Alpers syndrome, progressive external ophthalmoplegia, and other neurological conditions.
What Does This Test Measure?
This advanced next-generation sequencing (NGS) test specifically analyzes the POLG gene to detect:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Pathogenic variants associated with mitochondrial dysfunction
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Unexplained seizures or epilepsy that is difficult to control
- Developmental regression or loss of milestones
- Progressive neurological deterioration
- Liver dysfunction with neurological symptoms
- Family history of mitochondrial disorders
- Suspected Alpers syndrome or related conditions
Clinical Benefits of Testing
Early genetic diagnosis through POLG testing provides numerous advantages:
- Accurate diagnosis and differential diagnosis from other neurological conditions
- Personalized treatment planning and medication selection
- Family planning and genetic counseling opportunities
- Improved prognosis through early intervention
- Reduced diagnostic uncertainty and medical costs
Understanding Your Test Results
Your POLG gene test results will fall into one of several categories:
- Positive Result: Indicates the presence of known pathogenic mutations associated with mitochondrial disorders
- Negative Result: No known pathogenic mutations detected in the POLG gene
- Variant of Uncertain Significance: Genetic changes with unclear clinical implications requiring further evaluation
All results are accompanied by comprehensive interpretation from our board-certified genetic specialists and genetic counselors.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, and many other cities. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Diagnosis
If you or a family member are experiencing symptoms suggestive of mitochondrial disorders, don’t wait to get answers. Our comprehensive POLG gene testing provides the clarity needed for proper diagnosis and management. Contact our genetic counseling team today to discuss your testing options and schedule your appointment.
Call or WhatsApp us at +1(267) 388-9828 to book your POLG Gene Alpers Syndrome NGS Genetic DNA Test today!
