ENO3 Gene Glycogen Storage Disease Type 13 NGS Genetic DNA Test
Comprehensive Introduction to Glycogen Storage Disease Type 13 Testing
Glycogen Storage Disease Type 13 (GSD13) represents a rare inherited metabolic disorder affecting muscle energy metabolism. The ENO3 Gene NGS Genetic DNA Test serves as a critical diagnostic tool for identifying mutations in the ENO3 gene, which encodes the beta-enolase enzyme essential for glycolysis. This comprehensive genetic analysis provides definitive diagnosis for individuals experiencing unexplained muscle weakness, exercise intolerance, and metabolic symptoms.
At General Genetics Corporation, we utilize cutting-edge Next-Generation Sequencing technology to deliver precise, reliable genetic testing for metabolic disorders. Our advanced diagnostic approach enables healthcare providers to establish accurate diagnoses, guide treatment strategies, and provide essential genetic counseling for affected families.
What This Advanced Genetic Test Detects
The ENO3 Gene Glycogen Storage Disease Type 13 NGS Genetic DNA Test specifically identifies:
- Pathogenic variants in the ENO3 gene encoding beta-enolase
- Autosomal recessive inheritance patterns
- Specific mutations affecting glycolytic enzyme function
- Genetic markers associated with muscle metabolism disruption
- Carrier status for family members
This comprehensive analysis examines the entire coding region of the ENO3 gene, detecting single nucleotide variants, insertions, deletions, and copy number variations that contribute to glycogen storage disease type 13 pathology.
Clinical Significance of ENO3 Gene Mutations
Mutations in the ENO3 gene disrupt the normal function of beta-enolase, a crucial enzyme in the glycolytic pathway. This enzymatic deficiency impairs the conversion of 2-phosphoglycerate to phosphoenolpyruvate, leading to energy production deficits in muscle tissue during exercise and physical activity.
Who Should Consider ENO3 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with:
- Unexplained exercise intolerance and muscle fatigue
- Recurrent muscle pain and cramping during physical activity
- Elevated creatine kinase levels without clear cause
- Family history of glycogen storage disorders
- Consanguineous parents or affected siblings
- Diagnostic uncertainty regarding metabolic myopathies
Specific Clinical Indications
Healthcare providers should consider ENO3 genetic testing for patients demonstrating:
- Progressive muscle weakness beginning in childhood or adulthood
- Exercise-induced rhabdomyolysis episodes
- Metabolic myopathy symptoms unresponsive to conventional treatments
- Family planning considerations with known metabolic disorder history
Significant Benefits of ENO3 Genetic Testing
Undergoing the ENO3 Gene Glycogen Storage Disease Type 13 NGS Genetic DNA Test provides numerous advantages:
- Definitive Diagnosis: Eliminates diagnostic uncertainty and enables accurate disease classification
- Personalized Treatment Planning: Guides appropriate management strategies and lifestyle modifications
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates proactive management to prevent complications
- Carrier Detection: Identifies asymptomatic carriers within families
- Research Contribution: Advances understanding of rare metabolic disorders
Clinical Management Advantages
Accurate genetic diagnosis enables healthcare providers to implement targeted interventions, including exercise modification recommendations, nutritional guidance, and monitoring protocols to prevent severe metabolic crises and improve quality of life.
Understanding Your Test Results
Our comprehensive genetic testing provides detailed results with professional interpretation:
Possible Result Interpretations
- Positive Result: Identification of pathogenic ENO3 gene mutations confirms glycogen storage disease type 13 diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identification of genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identification of single pathogenic variant in asymptomatic individuals
Post-Test Guidance
All positive results include detailed genetic counseling sessions to help patients and families understand implications, inheritance patterns, and management strategies. Our genetic specialists provide comprehensive support for result interpretation and next steps.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- 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
- Department: Genetics
Nationwide Testing Availability
General Genetics Corporation maintains testing facilities across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our nationwide network ensures accessible genetic testing services for patients throughout the country.
Take Action for Your Genetic Health
Don’t let uncertainty about metabolic symptoms affect your quality of life. The ENO3 Gene Glycogen Storage Disease Type 13 NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. Our experienced genetic counselors and medical professionals are ready to guide you through the testing process and help you understand your results.
Book your ENO3 genetic test today by calling our dedicated genetics hotline at +1(267) 388-9828 or schedule your appointment online. Take the first step toward definitive diagnosis and personalized care for metabolic disorders.
Early genetic testing can provide crucial information for managing glycogen storage disease type 13 and improving long-term health outcomes. Contact us now to begin your genetic health journey with confidence and expert support.
