PDSS1 Gene Coenzyme Q10 Deficiency Type 2 NGS Genetic DNA Test
Understanding PDSS1 Gene Coenzyme Q10 Deficiency Type 2
The PDSS1 Gene Coenzyme Q10 Deficiency Type 2 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This specialized test focuses on identifying mutations in the PDSS1 gene, which plays a critical role in the biosynthesis of coenzyme Q10 (CoQ10), an essential component for cellular energy production and antioxidant protection. Coenzyme Q10 deficiency type 2 is a rare autosomal recessive disorder that primarily affects the nervous system, leading to progressive neurological deterioration and significant health challenges.
What This Test Measures and Detects
This advanced genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the PDSS1 gene for pathogenic variants. The test specifically identifies:
- Point mutations, insertions, and deletions in the PDSS1 gene
- Compound heterozygous or homozygous mutations
- Novel genetic variants associated with CoQ10 deficiency
- Inheritance patterns for family planning purposes
- Genetic markers that correlate with disease severity and progression
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of Coenzyme Q10 deficiency type 2, including:
- Infants and children with unexplained neurological regression
- Patients experiencing progressive muscle weakness and fatigue
- Individuals with developmental delays or loss of milestones
- Those with seizures, ataxia, or movement disorders
- Patients with hearing loss or vision problems of unknown origin
- Individuals with family history of neurological disorders
- Siblings of diagnosed patients for carrier screening
Clinical Indications and Symptoms
The test is particularly valuable for patients displaying complex neurological symptoms that have remained undiagnosed despite conventional testing. Early symptoms often include muscle weakness, developmental regression, and coordination difficulties that progressively worsen over time.
Benefits of PDSS1 Genetic Testing
Undergoing the PDSS1 Gene Coenzyme Q10 Deficiency Type 2 NGS Genetic DNA Test offers numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of CoQ10 deficiency type 2
- Early Intervention: Enables timely treatment with CoQ10 supplementation
- Family Planning: Identifies carrier status and recurrence risks
- Personalized Treatment: Guides targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression and outcomes
- Peace of Mind: Resolves diagnostic uncertainty for patients and families
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists. Results typically fall into three categories:
- Positive Result: Identifies pathogenic mutations in both copies of the PDSS1 gene, confirming CoQ10 deficiency type 2 diagnosis
- Carrier Status: Detects a single mutation, indicating increased risk for offspring but no personal disease manifestation
- Negative Result: No pathogenic mutations detected, significantly reducing likelihood of CoQ10 deficiency type 2
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
All positive results include comprehensive genetic counseling to discuss implications, treatment options, and family planning considerations.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | PDSS1 Gene Coenzyme Q10 Deficiency Type 2 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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) Technology |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Informed consent process
Nationwide Testing Availability
We proudly offer the PDSS1 Gene Coenzyme Q10 Deficiency Type 2 NGS Genetic DNA Test at our state-of-the-art facilities across the United States. Our network includes testing centers in:
- New York, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
And many other major metropolitan areas throughout the country.
Take Control of Your Neurological Health
Don’t let unexplained neurological symptoms remain a mystery. The PDSS1 Gene Coenzyme Q10 Deficiency Type 2 NGS Genetic DNA Test provides the clarity and direction needed for effective treatment planning. Our team of neurological genetics specialists is ready to guide you through the testing process and help interpret your results.
Ready to schedule your genetic test? Contact us today at +1(267) 388-9828 or book your appointment online. Take the first step toward definitive diagnosis and personalized care.
