MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16 NGS Genetic DNA Test
Comprehensive Introduction to MRPL44 Gene Testing
The MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16 NGS Genetic DNA Test represents a breakthrough in mitochondrial disorder diagnostics. This advanced genetic screening specifically targets mutations in the MRPL44 gene, which plays a crucial role in mitochondrial protein synthesis and cellular energy production. Combined Oxidative Phosphorylation Deficiency Type 16 is a rare but serious mitochondrial disorder that affects multiple organ systems, making early and accurate detection essential for proper management and treatment planning.
What This Test Measures and Detects
Our sophisticated NGS-based test provides comprehensive analysis of the MRPL44 gene to identify:
- Pathogenic variants and mutations in the MRPL44 gene
- Single nucleotide polymorphisms affecting mitochondrial function
- Deletions and insertions that disrupt oxidative phosphorylation
- Genetic markers associated with mitochondrial complex deficiencies
- Inheritance patterns for family genetic counseling
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Progressive muscle weakness and exercise intolerance
- Developmental delays in infants and children
- Neurological symptoms including seizures and ataxia
- Metabolic abnormalities and lactic acidosis
- Family history of mitochondrial disorders
- Unexplained multi-system organ involvement
- Failure to thrive in pediatric patients
- Vision or hearing problems associated with mitochondrial dysfunction
Significant Benefits of MRPL44 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Obtain clear answers for complex mitochondrial conditions
- Personalized Treatment: Enable targeted therapeutic interventions
- Family Planning: Provide crucial information for genetic counseling
- Early Intervention: Facilitate proactive management strategies
- Disease Progression Monitoring: Establish baseline for ongoing care
- Research Contribution: Support advancement in mitochondrial medicine
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates presence of MRPL44 gene mutation; requires consultation with genetic specialist
- Negative Result: Suggests absence of tested mutations; other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family planning and genetic counseling
All results are accompanied by detailed explanations and recommendations for next steps with our genetic counseling team.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16 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 |
Nationwide Accessibility and Booking
We proudly serve patients across the United States with convenient testing locations in major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our comprehensive network ensures accessible genetic testing services for all communities.
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Review of symptoms and family medical history
- Understanding of test implications and potential outcomes
Take Action Today
Don’t let uncertainty about mitochondrial disorders affect your quality of life. Our MRPL44 genetic testing provides the clarity needed for informed medical decisions and personalized care plans. Contact our genetic specialists today to schedule your comprehensive evaluation.
Call or WhatsApp: +1(267) 388-9828
Our dedicated team is available to answer your questions, discuss insurance coverage, and help you take the first step toward definitive answers about mitochondrial health.
