ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17 NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare mitochondrial disorders. This specialized genetic test focuses on the ELAC2 gene, which plays a critical role in mitochondrial RNA processing and energy production within cells. Combined Oxidative Phosphorylation Deficiency Type 17 is a severe metabolic condition that disrupts the body’s ability to generate cellular energy efficiently, leading to multi-system complications and progressive health decline.
What This Advanced Genetic Test Detects
Our comprehensive NGS (Next-Generation Sequencing) test specifically analyzes the ELAC2 gene for pathogenic variants that cause Combined Oxidative Phosphorylation Deficiency Type 17. The test examines:
- Complete ELAC2 gene sequencing for point mutations
- Detection of insertions, deletions, and copy number variations
- Assessment of mitochondrial RNA processing defects
- Identification of compound heterozygous mutations
- Evaluation of autosomal recessive inheritance patterns
Who Should Consider ELAC2 Genetic Testing?
Clinical Indications and Symptoms
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial dysfunction, including:
- Infants and children with developmental delays or regression
- Patients with unexplained muscle weakness or hypotonia
- Individuals experiencing neurological symptoms such as seizures or ataxia
- Patients with metabolic acidosis or lactic acidosis
- Those with failure to thrive despite adequate nutrition
- Individuals with family history of mitochondrial disorders
- Patients with unexplained multi-organ system involvement
- Couples with previous affected children planning future pregnancies
Significant Benefits of ELAC2 Genetic Testing
Transformative Diagnostic Advantages
Undergoing ELAC2 genetic testing provides numerous critical benefits for patients and families:
- Definitive Diagnosis: Provides conclusive genetic confirmation of Combined Oxidative Phosphorylation Deficiency Type 17
- Personalized Treatment: Enables targeted therapeutic interventions based on specific genetic findings
- Family Planning: Offers crucial information for reproductive decision-making and genetic counseling
- Prognostic Insight: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to optimize patient outcomes
- Research Contribution: Advances scientific understanding of mitochondrial disorders
Understanding Your Test Results
Comprehensive Result Interpretation
Our genetic specialists provide detailed interpretation of your ELAC2 test results:
- Positive Result: Indicates pathogenic mutations in the ELAC2 gene, confirming diagnosis of Combined Oxidative Phosphorylation Deficiency Type 17
- Negative Result: Suggests absence of known pathogenic ELAC2 variants, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated ELAC2 gene without disease manifestation
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Specifications and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17 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 |
| Specialty | Metabolic Genetics |
Pre-Test Requirements and Preparation
Essential Pre-Testing Steps
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation of the patient
- Genetic counseling session with our certified genetic counselors
- Development of detailed pedigree chart documenting family members affected with mitochondrial disorders
- Review of previous diagnostic tests and medical records
- Discussion of potential implications and limitations of genetic testing
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, and many more. Our network of certified collection centers ensures accessible testing regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders impact your health decisions. Our ELAC2 genetic testing provides the clarity needed for informed medical management and family planning. With our discounted pricing and comprehensive support services, you can access world-class genetic diagnostics without financial burden.
Ready to schedule your ELAC2 genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward definitive diagnosis and personalized care.
