GFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 1 NGS Genetic DNA Test
Understanding GFM1 Gene Testing
The GFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mitochondrial disorders. This specialized genetic analysis focuses on the GFM1 gene, which plays a critical role in mitochondrial protein synthesis and oxidative phosphorylation – the fundamental process through which cells generate energy.
Combined Oxidative Phosphorylation Deficiency Type 1 (COXPD1) is a rare autosomal recessive disorder characterized by impaired mitochondrial function, leading to multisystem complications. The GFM1 gene encodes the mitochondrial elongation factor G1, essential for protein translation within mitochondria. Mutations in this gene disrupt normal mitochondrial protein synthesis, resulting in deficient oxidative phosphorylation and compromised cellular energy production.
What This Test Measures and Detects
Our advanced NGS-based genetic test provides comprehensive analysis of the GFM1 gene to identify pathogenic variants associated with Combined Oxidative Phosphorylation Deficiency Type 1. The test specifically detects:
- Point mutations, insertions, and deletions in the GFM1 gene
- Variants affecting mitochondrial elongation factor G1 function
- Genetic alterations that impair mitochondrial protein synthesis
- Mutations leading to defective oxidative phosphorylation
- Both homozygous and compound heterozygous variants
Using state-of-the-art Next-Generation Sequencing technology, this test offers unparalleled accuracy in identifying even subtle genetic variations that traditional methods might miss.
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
Clinical Indications
- Unexplained neurological symptoms including developmental delay, seizures, or hypotonia
- Progressive neurological deterioration in infancy or early childhood
- Metabolic acidosis or lactic acidosis without clear cause
- Failure to thrive and growth retardation
- Hepatic dysfunction or elevated liver enzymes
- Cardiomyopathy or cardiac abnormalities
- Family history of mitochondrial disorders or unexplained infant deaths
- Consanguineous parentage with suspected autosomal recessive inheritance
Specific Symptoms Associated with COXPD1
- Early-onset encephalopathy with progressive neurological decline
- Hypertrophic cardiomyopathy developing in infancy
- Hepatic involvement with elevated transaminases
- Lactic acidosis and metabolic disturbances
- Muscle weakness and exercise intolerance
- Visual and hearing impairments
Benefits of GFM1 Gene Testing
Undergoing the GFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 1 test provides numerous clinical advantages:
Diagnostic Clarity
This test delivers definitive genetic confirmation, eliminating diagnostic uncertainty and enabling precise identification of the underlying cause of symptoms. Accurate diagnosis facilitates appropriate medical management and prevents unnecessary diagnostic procedures.
Treatment Guidance
Genetic confirmation allows for targeted therapeutic interventions, including mitochondrial cocktail therapies, dietary modifications, and specific management strategies for associated complications such as cardiac or hepatic involvement.
Family Planning and Genetic Counseling
Identification of GFM1 mutations provides crucial information for family members regarding carrier status and recurrence risks, enabling informed reproductive decisions and appropriate genetic counseling.
Prognostic Information
Understanding the specific genetic variant can help predict disease progression and guide long-term management planning, including monitoring for potential complications and optimizing quality of life.
Understanding Your Test Results
Our comprehensive genetic testing provides detailed results with expert interpretation:
Positive Result
A positive result indicates the presence of pathogenic mutations in the GFM1 gene consistent with Combined Oxidative Phosphorylation Deficiency Type 1. This confirmation enables:
- Implementation of targeted treatment strategies
- Family member testing and genetic counseling
- Development of comprehensive management plans
- Connection with specialists in mitochondrial medicine
Negative Result
A negative result suggests that GFM1 mutations are not the cause of the clinical presentation. However, this may indicate the need for:
- Further genetic testing for other mitochondrial disorders
- Evaluation for alternative metabolic conditions
- Continued clinical monitoring and assessment
Variant of Uncertain Significance (VUS)
In some cases, the test may identify genetic variations with unclear clinical significance. Our genetic counseling team provides guidance on:
- Interpretation of uncertain findings
- Recommendations for additional testing or family studies
- Clinical correlation and follow-up strategies
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | GFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 1 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 | General Physician, Genetics |
| Disease Category | Metabolic Disorders |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Review of previous diagnostic evaluations and test results
Nationwide Accessibility
GGC DNA provides comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and the Midwest region
- Houston and Texas metropolitan areas
- Phoenix and Arizona communities
- Philadelphia and the Northeast corridor
- San Antonio and South Central regions
- San Diego and coastal California
- Dallas and North Texas
- San Jose and Silicon Valley
Our nationwide network ensures that patients have access to cutting-edge genetic testing regardless of their location, with coordinated sample collection and result delivery.
Take the Next Step Toward Diagnosis
If you or a family member are experiencing symptoms suggestive of mitochondrial dysfunction or have a family history of Combined Oxidative Phosphorylation Deficiency, the GFM1 gene test could provide the answers you need. Early and accurate diagnosis is crucial for implementing appropriate management strategies and improving quality of life.
Call or WhatsApp our genetic specialists today at +1(267) 388-9828 to schedule your test or discuss your testing options with our experienced team.
Our dedicated genetic counselors are available to answer your questions, explain the testing process, and help you understand how this advanced genetic analysis can benefit your specific situation. Don’t let diagnostic uncertainty delay appropriate care – take control of your health journey with definitive genetic testing from GGC DNA.
