ETFDH Gene Glutaric Acidemia Type 2C NGS Genetic DNA Test
Comprehensive Introduction to Glutaric Acidemia Type 2C Genetic Testing
Glutaric acidemia type 2C represents a significant inherited metabolic disorder affecting the body’s ability to process fats and proteins efficiently. The ETFDH Gene NGS Genetic DNA Test stands as a cutting-edge diagnostic solution that employs next-generation sequencing technology to identify specific mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene. This gene plays a critical role in mitochondrial fatty acid oxidation and amino acid metabolism, making its proper function essential for energy production and metabolic balance.
The importance of this genetic screening cannot be overstated, as early detection enables healthcare providers to implement life-saving interventions and management strategies. By identifying ETFDH gene mutations before severe symptoms manifest, patients can receive targeted treatments that significantly improve quality of life and reduce the risk of metabolic crises.
What the ETFDH Gene Test Measures and Detects
This sophisticated genetic analysis specifically targets the ETFDH gene located on chromosome 4, examining its complete coding sequence and adjacent intronic regions for pathogenic variants. The test identifies:
- Point mutations affecting protein structure and function
- Small insertions and deletions disrupting gene expression
- Splice site variants impacting mRNA processing
- Missense, nonsense, and frameshift mutations
- Copy number variations affecting gene dosage
The NGS methodology provides comprehensive coverage of all exons and flanking regions, ensuring high detection sensitivity for both common and rare variants associated with glutaric acidemia type 2C.
Who Should Consider ETFDH Genetic Testing
Clinical Indications and Symptom Presentation
Genetic testing for ETFDH mutations is recommended for individuals presenting with:
- Unexplained metabolic acidosis episodes
- Recurrent hypoglycemia without apparent cause
- Muscle weakness, hypotonia, or exercise intolerance
- Developmental delays in infancy or childhood
- Hepatomegaly or liver dysfunction
- Cardiomyopathy or cardiac abnormalities
- Family history of metabolic disorders
- Consanguineous parentage increasing genetic risk
High-Risk Populations
This test is particularly crucial for newborns showing metabolic distress, children with failure to thrive, and individuals with unexplained recurrent illness patterns. Family members of diagnosed patients should also consider carrier testing for genetic counseling purposes.
Significant Benefits of ETFDH Genetic Testing
Undergoing ETFDH gene analysis provides numerous advantages for patients and families:
- Early Intervention Opportunities: Enables prompt implementation of dietary modifications and medical treatments
- Accurate Diagnosis: Provides definitive identification of the underlying genetic cause
- Family Planning Guidance: Informs reproductive decisions and prenatal testing options
- Personalized Treatment Plans: Allows for tailored therapeutic approaches based on specific mutation types
- Prognostic Information: Helps predict disease severity and potential complications
- Prevention of Metabolic Crises: Facilitates proactive management to avoid life-threatening episodes
Understanding Your ETFDH Test Results
Interpretation Guidelines
Test results typically fall into several categories requiring different management approaches:
- Positive Result: Identification of pathogenic variants confirms glutaric acidemia type 2C diagnosis, necessitating immediate metabolic specialist consultation and implementation of specific dietary restrictions, including low-protein, low-fat regimens with frequent feeding schedules.
- Carrier Status: Identification of a single mutated copy indicates carrier status with no personal disease risk but important implications for family planning and genetic counseling.
- Negative Result: Absence of known pathogenic variants significantly reduces but does not completely eliminate the possibility of glutaric acidemia type 2C, as rare or novel mutations may escape detection.
- Variants of Uncertain Significance: Identification of genetic changes with unknown clinical impact requires ongoing monitoring and periodic re-evaluation as scientific knowledge advances.
Post-Test Recommendations
All positive results warrant comprehensive genetic counseling to discuss inheritance patterns, recurrence risks, and family testing options. Regular follow-up with metabolic specialists ensures optimal management and monitoring of disease progression.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | ETFDH Gene Glutaric Acidemia Type 2C 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Metabolic Genetics |
| Disease Category | Inherited Metabolic Disorders |
Pre-Test Preparation Requirements
Proper preparation ensures optimal testing outcomes:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process explaining benefits and limitations
- Insurance pre-authorization when applicable
Nationwide Accessibility and Convenience
We maintain comprehensive testing facilities across the United States, with specialized centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing regardless of your location.
Take Control of Your Metabolic Health Today
Don’t let uncertainty about metabolic symptoms compromise your health or your family’s wellbeing. The ETFDH Gene Glutaric Acidemia Type 2C NGS Genetic DNA Test provides definitive answers and clear direction for managing this complex metabolic condition. Our experienced genetic counselors and metabolic specialists stand ready to guide you through every step of the testing process and beyond.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our dedicated team is available to answer your questions, discuss insurance coverage options, and help you take the first step toward comprehensive metabolic health management.
Early detection through advanced genetic testing can transform outcomes for individuals with glutaric acidemia type 2C. Take proactive control of your metabolic health journey today.
