MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 NGS Genetic DNA Test
Understanding MRPS16 Gene Testing
The MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mitochondrial disorders. This specialized test focuses on the MRPS16 gene, which plays a critical role in mitochondrial protein synthesis and energy production within cells. Mitochondrial disorders can affect multiple organ systems and present with complex clinical manifestations, making accurate genetic diagnosis essential for proper management and treatment planning.
What is Combined Oxidative Phosphorylation Deficiency Type 2?
Combined Oxidative Phosphorylation Deficiency Type 2 is a rare mitochondrial disorder characterized by impaired energy production in cells. This condition results from mutations in the MRPS16 gene, which encodes a protein component of the mitochondrial ribosome. When this gene is mutated, it disrupts the proper assembly of mitochondrial respiratory chain complexes, leading to decreased ATP production and cellular energy deficiency.
What the Test Measures and Detects
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the MRPS16 gene for pathogenic variants. The test specifically detects:
- Point mutations, insertions, and deletions in the MRPS16 gene
- Variants affecting mitochondrial ribosomal function
- Genetic changes associated with impaired oxidative phosphorylation
- Inheritance patterns of mitochondrial disorders
- Risk assessment for family members
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial dysfunction, including:
- Unexplained neurological symptoms such as seizures, ataxia, or developmental regression
- Progressive muscle weakness and exercise intolerance
- Metabolic acidosis and lactic acidosis
- Growth retardation and failure to thrive in infants
- Cardiomyopathy or other cardiac abnormalities
- Hepatic dysfunction and gastrointestinal issues
- Family history of mitochondrial disorders or unexplained infant deaths
- Developmental delays and intellectual disability
Clinical Indications for Testing
Healthcare providers may recommend MRPS16 gene testing when patients present with multisystem involvement, particularly when conventional metabolic testing reveals abnormalities in energy metabolism. The test is especially valuable for establishing a definitive diagnosis in cases where clinical symptoms overlap with other neurological or metabolic conditions.
Benefits of MRPS16 Gene Testing
Undergoing MRPS16 gene testing provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of Combined Oxidative Phosphorylation Deficiency Type 2
- Personalized Treatment: Enables targeted therapeutic interventions based on specific genetic findings
- Family Planning: Offers crucial information for reproductive decision-making and genetic counseling
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to optimize patient outcomes
- Research Contribution: Contributes to the growing understanding of mitochondrial disorders
Understanding Your Test Results
Test results are typically available within 3 to 4 weeks and are interpreted by our team of certified genetic specialists. Your results will fall into one of the following categories:
Positive Result
A positive result indicates the presence of pathogenic variants in the MRPS16 gene associated with Combined Oxidative Phosphorylation Deficiency Type 2. This confirmation enables:
- Implementation of targeted treatment strategies
- Family member testing and genetic counseling
- Development of comprehensive management plans
- Connection with appropriate specialist care
Negative Result
A negative result suggests that no pathogenic variants were detected in the MRPS16 gene. However, this does not completely rule out mitochondrial disorders, as other genetic or environmental factors may be involved. Further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance (VUS)
In some cases, genetic variants of uncertain clinical significance may be identified. These require additional evaluation and may necessitate follow-up testing of family members to determine clinical relevance.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- 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
- Specialty: Metabolic Genetics
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to mitochondrial symptoms
- Participation in genetic counseling session
- Detailed pedigree chart of family members affected by similar conditions
- Informed consent for genetic testing
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States, with convenient locations in major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care for patients nationwide.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of mitochondrial dysfunction, don’t wait to seek answers. Early genetic testing can provide crucial information for managing health and making informed medical decisions. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Book your MRPS16 Gene Test today by calling +1(267) 388-9828 or schedule your appointment online. Take control of your genetic health with GGC DNA’s advanced diagnostic testing services.
