POLG Gene Mitochondrial DNA Depletion Syndrome Type 4B NGS Genetic DNA Test
Comprehensive Introduction to POLG Gene Testing
The POLG Gene Mitochondrial DNA Depletion Syndrome Type 4B NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the polymerase gamma (POLG) gene, which plays a critical role in mitochondrial DNA replication and maintenance. Mitochondrial DNA depletion syndromes are rare genetic disorders characterized by reduced mitochondrial DNA copy numbers in affected tissues, leading to severe energy deficiency and multi-system organ dysfunction.
This specialized test is particularly important because mitochondrial disorders often present with complex, overlapping symptoms that can be challenging to diagnose through conventional methods. The POLG gene encodes the catalytic subunit of DNA polymerase gamma, the only DNA polymerase responsible for replicating mitochondrial DNA in human cells. Mutations in this gene disrupt mitochondrial DNA synthesis, resulting in progressive neurological deterioration and organ failure.
What the Test Measures and Detects
Our advanced NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the POLG gene to identify:
- Pathogenic variants and mutations throughout the entire POLG gene coding region
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Autosomal recessive inheritance patterns characteristic of mitochondrial DNA depletion syndrome type 4B
- Specific mutations known to cause Alpers-Huttenlocher syndrome and other POLG-related disorders
- Genetic markers associated with disease severity and progression
Who Should Consider This Test
This genetic test is recommended for individuals presenting with the following symptoms or clinical indications:
- Infants and children with unexplained developmental regression or delay
- Patients experiencing refractory seizures or epileptic encephalopathy
- Individuals with progressive liver dysfunction or liver failure
- Cases of unexplained neurological deterioration with muscle weakness
- Family history of mitochondrial disorders or consanguineous parents
- Suspected Alpers-Huttenlocher syndrome or other POLG-related conditions
- Patients with elevated lactate levels in blood or cerebrospinal fluid
Significant Benefits of POLG Gene Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive molecular confirmation of mitochondrial DNA depletion syndrome type 4B
- Early Intervention: Enables timely implementation of targeted treatments and supportive care
- Family Planning: Facilitates genetic counseling and informed reproductive decisions
- Prognostic Information: Helps predict disease course and anticipate potential complications
- Treatment Guidance: Informs medication choices, particularly avoiding valproic acid in POLG-positive patients
- Research Contribution: Advances understanding of mitochondrial disorders and potential therapies
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your results with the following general guidance:
- Positive Result: Identification of pathogenic mutations confirms mitochondrial DNA depletion syndrome type 4B diagnosis, requiring immediate neurological and metabolic management
- Negative Result: Absence of known pathogenic variants suggests alternative diagnoses should be considered
- Variant of Uncertain Significance (VUS): Requires additional family studies and clinical correlation
- Carrier Status: Identification of single mutation indicates carrier status with implications for family planning
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
GGC DNA maintains comprehensive testing facilities across the United States, with branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Our state-of-the-art laboratories are equipped with the latest NGS technology and staffed by experienced genetic specialists dedicated to providing accurate, reliable results for patients nationwide.
Pre-Test Requirements and Preparation
To ensure optimal testing conditions and accurate results, please note the following requirements:
- Complete clinical history documentation for the patient
- Genetic counseling session to create detailed family pedigree chart
- Identification of affected family members for comprehensive analysis
- Informed consent for genetic testing and potential incidental findings
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and treatment planning. Our team of genetic specialists is ready to assist you with this crucial testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your POLG Gene Mitochondrial DNA Depletion Syndrome Type 4B NGS Genetic DNA Test. Our compassionate staff will guide you through the testing process, answer all your questions, and help you take the first step toward understanding and managing this complex genetic condition.
Early detection through comprehensive genetic testing can make a significant difference in treatment outcomes and quality of life for patients with mitochondrial disorders. Contact us now to book your appointment and take control of your genetic health journey.
