G6PC Gene Von Gierke Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Glycogen Storage Disease Type 1
The G6PC Gene Von Gierke Disease NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, offering precise detection of genetic mutations responsible for Glycogen Storage Disease Type 1 (GSD1). This autosomal recessive condition, also known as Von Gierke disease, results from deficiencies in the glucose-6-phosphatase enzyme system, leading to severe metabolic complications that can significantly impact quality of life and long-term health outcomes.
What This Advanced Genetic Test Measures
Our comprehensive NGS (Next Generation Sequencing) test specifically targets the G6PC gene located on chromosome 17q21, which encodes the catalytic subunit of glucose-6-phosphatase. The test identifies:
- Point mutations, deletions, and insertions in the G6PC gene
- Pathogenic variants affecting enzyme function
- Autosomal recessive inheritance patterns
- Carrier status for family planning purposes
- Specific mutation types for personalized treatment approaches
Who Should Consider G6PC Genetic Testing
This specialized genetic test is recommended for individuals presenting with clinical symptoms suggestive of Glycogen Storage Disease Type 1, including:
- Unexplained recurrent hypoglycemia, especially fasting hypoglycemia
- Hepatomegaly (enlarged liver) without evidence of liver disease
- Growth retardation and delayed puberty in children
- Metabolic acidosis and lactic acidosis
- Hyperlipidemia and hyperuricemia
- Family history of Von Gierke disease or unexplained infant deaths
- Parents planning pregnancy with known family history of GSD1
Significant Benefits of Early Detection
Early diagnosis through G6PC genetic testing provides numerous critical advantages:
- Personalized Treatment Planning: Enables tailored dietary management with frequent cornstarch feedings
- Prevention of Complications: Reduces risk of liver adenomas, renal disease, and growth impairment
- Family Planning Guidance: Provides accurate carrier testing and recurrence risk assessment
- Improved Quality of Life: Early intervention significantly enhances long-term prognosis
- Comprehensive Management: Facilitates multidisciplinary care involving metabolic specialists
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your G6PC gene test results:
- Positive Result: Confirms diagnosis of Glycogen Storage Disease Type 1a, enabling immediate implementation of specialized management protocols
- Negative Result: Rules out G6PC-related Von Gierke disease, though additional testing may be recommended for other glycogen storage disorders
- Variant of Uncertain Significance: Requires further clinical correlation and possibly family member testing
- Carrier Status: Identifies individuals with one mutated G6PC gene copy who are typically asymptomatic but can pass the condition to offspring
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | G6PC Gene Von Gierke Disease 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 |
Nationwide Testing Accessibility
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, and San Jose. Our network of certified genetic counselors and metabolic specialists ensures comprehensive care regardless of your location.
Pre-Test Preparation Requirements
To ensure optimal testing accuracy and comprehensive care, we require:
- Complete clinical history documentation
- Genetic counseling session with pedigree chart development
- Informed consent for genetic testing
- Insurance pre-authorization when applicable
Take Control of Your Metabolic Health Today
Don’t let uncertainty about metabolic symptoms compromise your health or your family’s future. Our G6PC Gene Von Gierke Disease NGS Genetic DNA Test provides definitive answers and clear direction for management. With our special discounted price of $500 USD, advanced genetic testing is more accessible than ever.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our compassionate genetic specialists are ready to guide you through every step of the testing process and help you understand your results for better health outcomes.
