PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 NGS Genetic DNA Test represents a breakthrough in diagnostic precision for rare metabolic conditions. This advanced genetic analysis specifically targets mutations in the PNPT1 gene, which plays a critical role in mitochondrial RNA processing and energy metabolism. Combined oxidative phosphorylation deficiency type 13 is a severe autosomal recessive disorder characterized by impaired mitochondrial function, leading to multisystem complications and significant health challenges.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the PNPT1 gene to identify:
- Pathogenic variants and mutations in the PNPT1 gene
- Single nucleotide polymorphisms affecting mitochondrial function
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations
- Autosomal recessive inheritance patterns
The test provides complete gene sequencing with high coverage depth, ensuring accurate detection of even rare genetic variants that contribute to oxidative phosphorylation deficiencies.
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures or encephalopathy
- Developmental delays or regression in motor skills
- Metabolic acidosis or lactic acidosis
- Failure to thrive in infancy or childhood
- Muscle weakness, hypotonia, or exercise intolerance
- Family history of mitochondrial disorders
- Unexplained multi-organ system involvement
- Suspected metabolic disorders with unclear etiology
Clinical Benefits of PNPT1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Precise identification of PNPT1 mutations enables definitive diagnosis
- Personalized Treatment: Results guide targeted therapeutic interventions
- Family Planning: Essential information for genetic counseling and reproductive decisions
- Prognostic Insights: Understanding disease progression and potential complications
- Early Intervention: Timely diagnosis allows for proactive management strategies
- Research Contribution: Participation advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identified pathogenic variants confirm diagnosis and guide management
- Negative Result: No detected PNPT1 mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family planning and genetic counseling
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists.
Test Pricing and Details
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 NGS Genetic DNA Test | – |
| Discount Price | Limited time special offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Comprehensive analysis period | 3-4 Weeks |
| Sample Type | Multiple collection options available | Blood, Extracted DNA, or Blood on FTA Card |
Pre-Test Requirements and Preparation
To ensure optimal testing accuracy, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our certified specialists
- Development of detailed family pedigree chart
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about metabolic symptoms continue. Our PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 NGS Genetic DNA Test provides the answers you need for informed medical decisions and personalized care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Take control of your genetic health with comprehensive, accurate testing from America’s leading genetics laboratory. Early diagnosis can make a significant difference in managing metabolic disorders and improving quality of life.
