MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5 NGS Genetic DNA Test
Understanding Mitochondrial Energy Disorders
Combined Oxidative Phosphorylation Deficiency Type 5 represents a critical mitochondrial disorder affecting the body’s primary energy production system. This condition disrupts the oxidative phosphorylation process within mitochondria, the cellular powerhouses responsible for generating ATP – the fundamental energy currency of all living cells. The MRPS22 gene plays a pivotal role in mitochondrial protein synthesis, and mutations in this gene can lead to severe metabolic consequences affecting multiple organ systems.
What This Advanced Genetic Test Detects
Our MRPS22 Gene NGS Genetic DNA Test employs cutting-edge Next-Generation Sequencing technology to comprehensively analyze the MRPS22 gene for pathogenic variants. This sophisticated diagnostic approach identifies:
- Point mutations and single nucleotide variants
- Small insertions and deletions (indels)
- Copy number variations affecting gene function
- Pathogenic variants disrupting mitochondrial ribosomal function
- Genetic abnormalities impacting oxidative phosphorylation complex assembly
Who Should Consider This Genetic Test
This comprehensive genetic evaluation is recommended for individuals presenting with symptoms suggestive of mitochondrial dysfunction:
- Infants and children with developmental delays or failure to thrive
- Patients experiencing progressive muscle weakness or exercise intolerance
- Individuals with neurological symptoms including seizures or ataxia
- Those with metabolic abnormalities such as lactic acidosis
- Patients with multi-system involvement affecting heart, liver, or kidneys
- Individuals with family history of mitochondrial disorders
- Unexplained cases of hearing or vision loss
Significant Benefits of Early Detection
Early identification of MRPS22 gene mutations provides numerous clinical advantages:
- Accurate Diagnosis: Confirms the specific genetic cause of symptoms
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling
- Proactive Management: Allows for early intervention and symptom management
- Improved Outcomes: Early detection can significantly impact disease progression
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and medical visits
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Indicates the presence of pathogenic MRPS22 gene mutations. This confirms the diagnosis of Combined Oxidative Phosphorylation Deficiency Type 5 and enables targeted management strategies.
- Negative Result: Suggests no detectable mutations in the MRPS22 gene. However, other genetic causes of mitochondrial dysfunction may need consideration.
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical impact. Additional family studies or functional testing may be recommended.
All results are accompanied by detailed interpretation and genetic counseling recommendations to ensure proper understanding and next steps.
Test Pricing and Sample Requirements
| Test Component | Details |
|---|---|
| Test Name | MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5 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 |
Pre-Test Preparation Requirements
To ensure optimal testing accuracy and comprehensive assessment:
- Provide complete clinical history of the patient
- Participate in a genetic counseling session
- Prepare a detailed pedigree chart of family members affected with Combined Oxidative Phosphorylation Deficiency Type 5
- Discuss testing implications and potential outcomes with our genetic specialists
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, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders affect your quality of life. Our advanced MRPS22 gene testing provides the clarity needed for informed medical decisions and personalized care planning. With our discounted price of $500 USD and comprehensive nationwide coverage, accessing this crucial genetic information has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5 NGS Genetic DNA Test. Our dedicated genetic specialists are ready to guide you through every step of the testing process and help you understand your results for better health outcomes.
