G6PC Gene Glycogen Storage Disease Type 1A NGS Genetic DNA Test
Comprehensive Genetic Testing for Glycogen Storage Disease Type 1A
Glycogen Storage Disease Type 1A (GSD1A), also known as Von Gierke disease, is a rare inherited metabolic disorder affecting approximately 1 in 100,000 individuals worldwide. This condition results from mutations in the G6PC gene, which encodes glucose-6-phosphatase, a critical enzyme in glucose metabolism. Our advanced NGS Genetic DNA Test provides comprehensive analysis of the G6PC gene to identify pathogenic variants responsible for this serious metabolic condition.
What Does This Test Measure and Detect?
This sophisticated genetic test utilizes next-generation sequencing technology to thoroughly examine the entire coding region of the G6PC gene. The test specifically detects:
- Point mutations, insertions, and deletions in the G6PC gene
- Pathogenic variants affecting glucose-6-phosphatase enzyme function
- Autosomal recessive inheritance patterns
- Both homozygous and compound heterozygous mutations
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with clinical symptoms suggestive of Glycogen Storage Disease Type 1A, including:
- Infants and children with recurrent hypoglycemia, especially during fasting
- Patients with unexplained hepatomegaly (enlarged liver)
- Individuals experiencing growth retardation and delayed puberty
- Those with characteristic “doll-like” facial features
- Patients showing elevated blood lactate, uric acid, and triglyceride levels
- Individuals with a family history of GSD1A or unexplained infant deaths
- Couples planning pregnancy with known family history of metabolic disorders
Key Benefits of G6PC Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out GSD1A with high precision
- Personalized Treatment: Enables tailored dietary and medical management
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Facilitates prompt treatment to prevent complications
- Prognostic Information: Helps predict disease severity and progression
- Carrier Detection: Identifies asymptomatic carriers in families
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies pathogenic mutations confirming GSD1A diagnosis, requiring immediate medical management and genetic counseling
- Negative Result: No disease-causing mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Identifies individuals with one mutated copy who can pass the condition to offspring
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | G6PC Gene Glycogen Storage Disease Type 1A NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree
- Discussion of potential implications and limitations of testing
- Informed consent process for genetic testing
Nationwide 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, San Jose, and many more. Our network of certified collection centers ensures accessible testing regardless of your location.
Take Control of Your Health Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our G6PC Gene Glycogen Storage Disease Type 1A NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Early detection through genetic testing can significantly improve long-term outcomes and quality of life for individuals with GSD1A.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
