RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11 NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Energy Disorders
The RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for mitochondrial disorders. This advanced test specifically targets the RMND1 gene, which plays a critical role in mitochondrial protein synthesis and energy production. Combined Oxidative Phosphorylation Deficiency Type 11 is a rare autosomal recessive condition that disrupts cellular energy metabolism, leading to multi-system complications that can significantly impact quality of life.
What This Test Measures and Detects
Our comprehensive NGS-based analysis examines the entire RMND1 gene sequence to identify pathogenic variants responsible for Combined Oxidative Phosphorylation Deficiency Type 11. The test specifically detects:
- Point mutations and small insertions/deletions in the RMND1 gene
- Pathogenic variants affecting mitochondrial ribosomal function
- Genetic alterations that impair oxidative phosphorylation
- Inheritance patterns for family planning purposes
- Carrier status identification in asymptomatic individuals
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
- Unexplained neurological symptoms such as seizures, ataxia, or developmental regression
- Progressive muscle weakness and exercise intolerance
- Developmental delays in infants and children
- Metabolic abnormalities including lactic acidosis
- Family history of mitochondrial disorders or unexplained infant deaths
- Consanguineous parents or known carrier status in family members
- Unexplained multi-organ system involvement
Clinical Benefits of RMND1 Genetic Testing
Undergoing RMND1 genetic testing provides numerous clinical advantages for patients and healthcare providers:
- Definitive Diagnosis: Provides conclusive genetic evidence for Combined Oxidative Phosphorylation Deficiency Type 11
- Personalized Treatment: Enables targeted therapeutic interventions based on specific genetic findings
- Family Planning: Identifies carrier status and recurrence risks for future pregnancies
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to optimize outcomes
- Research Contribution: Advances understanding of mitochondrial disorders through genetic data
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your RMND1 test results with clarity and confidence:
- Positive Result: Indicates the presence of pathogenic variants in the RMND1 gene, confirming Combined Oxidative Phosphorylation Deficiency Type 11 diagnosis
- Negative Result: Suggests no disease-causing variants were detected in the RMND1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detects individuals with one copy of a pathogenic variant who are typically asymptomatic
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11 NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of testing location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about mitochondrial disorders affect your health decisions. Our experienced genetic specialists are ready to guide you through the testing process and provide the answers you need for informed medical management.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your RMND1 genetic test consultation and take control of your genetic health journey.
With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, we make genetic testing accessible and convenient for patients nationwide. Our pre-test genetic counseling ensures you’re fully prepared for the testing process and understand the potential implications of your results.
