NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals affected by mitochondrial disorders. This advanced genetic analysis specifically targets mutations in the NARS2 gene, which plays a critical role in mitochondrial protein synthesis and cellular energy production. Combined Oxidative Phosphorylation Deficiency Type 24 (COXPD24) is a rare but serious condition that disrupts the body’s ability to generate energy efficiently, leading to multi-system complications that can significantly impact quality of life.
What This Test Measures and Detects
This sophisticated genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the NARS2 gene for pathogenic variants. The test specifically identifies:
- Point mutations, insertions, and deletions in the NARS2 gene
- Variants affecting mitochondrial asparaginyl-tRNA synthetase function
- Genetic changes that impair oxidative phosphorylation processes
- Inheritance patterns of COXPD24 within families
- Risk assessment for future generations
The NARS2 gene encodes mitochondrial asparaginyl-tRNA synthetase, an essential enzyme for protein synthesis within mitochondria. When this gene contains mutations, it disrupts the proper assembly of oxidative phosphorylation complexes, leading to energy deficiency throughout the body.
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
- Infants and children with developmental delays or regression
- Patients experiencing progressive neurological symptoms
- Individuals with unexplained muscle weakness or exercise intolerance
- Patients with metabolic crises triggered by illness or fasting
- Those with family history of mitochondrial disorders
- Individuals with multisystem involvement including neurological, muscular, and metabolic symptoms
- Patients with elevated lactate levels in blood or cerebrospinal fluid
Clinical Benefits of NARS2 Genetic Testing
Undergoing the NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 test provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of COXPD24, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted therapeutic interventions based on specific genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decision-making
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to optimize outcomes
- Research Contribution: Contributes to the growing understanding of mitochondrial disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into one of several categories:
- Positive Result: Identifies a pathogenic variant in the NARS2 gene, confirming the diagnosis of Combined Oxidative Phosphorylation Deficiency Type 24
- Negative Result: No disease-causing variants detected in the NARS2 gene, though other genetic causes may need consideration
- Variant of Uncertain Significance (VUS): Identifies a genetic change whose clinical significance is currently unknown, requiring further evaluation
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but may not show symptoms
Our genetic counseling team will provide comprehensive guidance on understanding your results, discussing implications for family members, and developing appropriate management strategies.
Test Pricing and Sample Requirements
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 NGS Genetic DNA Test | – |
| Discount Price | Limited time offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Results in 3-4 weeks | – |
| Sample Type | Blood, Extracted DNA, or One drop Blood on FTA Card | – |
Pre-Test Preparation and Requirements
To ensure optimal testing outcomes, we recommend the following preparations:
- Provide comprehensive clinical history of the patient undergoing testing
- Participate in a genetic counseling session to discuss testing implications
- Complete a detailed pedigree chart documenting family members affected by similar symptoms
- Discuss potential outcomes and management strategies with your healthcare provider
- Consider insurance coverage and financial planning for ongoing care
Nationwide Testing Availability
We proudly offer the NARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 24 NGS Genetic DNA Test across the United States through our extensive network of testing facilities. Our services are available in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other locations nationwide.
Take the Next Step Toward Genetic Clarity
If you or a loved one are experiencing symptoms suggestive of Combined Oxidative Phosphorylation Deficiency Type 24, don’t delay in seeking definitive answers. Our advanced NGS technology provides the precision and accuracy needed for confident diagnosis and informed treatment planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your NARS2 genetic test. Our compassionate team is ready to guide you through every step of the testing process and help you understand your genetic health.
Early diagnosis through comprehensive genetic testing can make a significant difference in managing mitochondrial disorders and improving quality of life. Trust our expertise in metabolic genetics to provide the answers you need for better health outcomes.
