SERAC1 Gene 3-Methylglutaconic Aciduria with Deafness Encephalopathy and Leigh-like Syndrome NGS Genetic DNA Test
Understanding SERAC1 Gene Disorders
The SERAC1 Gene 3-Methylglutaconic Aciduria NGS Genetic DNA Test represents a breakthrough in diagnosing rare metabolic disorders affecting mitochondrial function. This comprehensive genetic analysis specifically targets mutations in the SERAC1 gene, which plays a critical role in phospholipid remodeling and mitochondrial membrane maintenance. When this gene malfunctions, it leads to a complex syndrome characterized by multiple neurological and metabolic abnormalities.
What Does This Test Measure?
Our advanced Next-Generation Sequencing (NGS) technology comprehensively analyzes the SERAC1 gene to identify:
- Pathogenic variants and mutations in the SERAC1 gene
- Single nucleotide polymorphisms (SNPs) associated with disease
- Insertions, deletions, and copy number variations
- Compound heterozygous and homozygous mutations
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with:
Clinical Symptoms and Indications
- Progressive neurological deterioration in infancy or childhood
- Sensorineural hearing loss or deafness
- Developmental regression and encephalopathy
- Leigh-like syndrome symptoms including brainstem involvement
- 3-methylglutaconic aciduria detected in urine organic acid analysis
- Family history of similar metabolic or neurological disorders
- Unexplained developmental delays with metabolic abnormalities
Benefits of SERAC1 Genetic Testing
Comprehensive Diagnostic Advantages
- Accurate Diagnosis: Provides definitive genetic confirmation of SERAC1-related disorders
- Early Intervention: Enables timely management and treatment planning
- Family Planning: Supports reproductive decisions and carrier testing
- Personalized Care: Guides targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of rare metabolic diseases
Understanding Your Test Results
Interpretation Guidance
Our comprehensive genetic counseling services help you understand your results:
- Positive Result: Confirms SERAC1 gene mutation and diagnosis
- Negative Result: Rules out SERAC1-related disorder (other causes should be investigated)
- Variant of Uncertain Significance: Requires further clinical correlation
- Carrier Status: Identifies individuals with single mutation copies
Test Details and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | SERAC1 Gene 3-Methylglutaconic Aciduria with Deafness Encephalopathy and Leigh-like Syndrome NGS Genetic DNA Test | – |
| Discount Price | Special promotional rate | $500 |
| Regular Price | Standard testing fee | $700 |
| Turnaround Time | Comprehensive analysis period | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One drop Blood on FTA Card | – |
| Methodology | Next-Generation Sequencing (NGS) Technology | – |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
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 cities. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take Action Today
Don’t let uncertainty about genetic metabolic disorders delay proper diagnosis and treatment. Our SERAC1 genetic test provides the clarity needed for informed medical decisions and personalized care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling specialists. Take the first step toward definitive diagnosis and comprehensive care management.
