ALDOB Gene Fructose Intolerance NGS Genetic DNA Test
Understanding Hereditary Fructose Intolerance
Hereditary fructose intolerance (HFI) is a rare genetic metabolic disorder caused by mutations in the ALDOB gene, which encodes the enzyme aldolase B. This enzyme plays a critical role in fructose metabolism, specifically in the liver, kidneys, and small intestine. When aldolase B is deficient or non-functional, the body cannot properly break down fructose, leading to the accumulation of toxic metabolites that can cause severe health complications.
The ALDOB Gene Fructose Intolerance NGS Genetic DNA Test represents a breakthrough in genetic diagnostics, utilizing next-generation sequencing technology to provide comprehensive analysis of the ALDOB gene. This advanced testing method enables precise identification of genetic mutations responsible for fructose metabolism disorders, offering patients and healthcare providers definitive diagnostic information for proper management and treatment planning.
What the Test Measures and Detects
This sophisticated genetic test specifically analyzes the ALDOB gene using cutting-edge NGS technology to identify:
- Point mutations in the ALDOB gene coding regions
- Deletions and insertions affecting gene function
- Missense, nonsense, and frameshift mutations
- Known pathogenic variants associated with hereditary fructose intolerance
- Novel genetic variations that may impact aldolase B enzyme activity
The test provides comprehensive coverage of all exons and flanking intronic regions of the ALDOB gene, ensuring maximum detection sensitivity for mutations that disrupt normal fructose metabolism pathways.
Clinical Significance of Test Results
Positive identification of ALDOB gene mutations confirms the diagnosis of hereditary fructose intolerance, enabling healthcare providers to implement appropriate dietary restrictions and management strategies. Early detection through genetic testing can prevent life-threatening complications and improve long-term health outcomes for affected individuals.
Who Should Consider This Test
Genetic testing for ALDOB gene mutations is recommended for individuals experiencing:
- Recurrent episodes of nausea, vomiting, and abdominal pain after consuming fruits, honey, or sugar-containing foods
- Unexplained hypoglycemia (low blood sugar) following fructose ingestion
- Failure to thrive in infants and children after introducing fructose-containing foods
- Liver dysfunction or hepatomegaly without clear cause
- Family history of fructose intolerance or unexplained metabolic disorders
- Parents planning pregnancy with known family history of HFI
- Individuals with suspected metabolic disorders who have not responded to conventional diagnostic approaches
Special Considerations for Pediatric Patients
Early genetic testing is particularly important for infants and young children, as hereditary fructose intolerance can manifest severely upon introduction of fructose-containing formulas or solid foods. Timely diagnosis prevents developmental delays and serious metabolic complications.
Benefits of ALDOB Genetic Testing
Undergoing the ALDOB Gene Fructose Intolerance NGS Genetic DNA Test provides numerous significant advantages:
- Definitive Diagnosis: Provides conclusive genetic evidence for hereditary fructose intolerance, eliminating diagnostic uncertainty
- Personalized Dietary Management: Enables development of precise fructose-restricted diet plans tailored to individual genetic findings
- Family Planning Guidance: Offers valuable information for genetic counseling and family planning decisions
- Prevention of Complications: Early detection helps prevent serious liver damage, kidney dysfunction, and metabolic crises
- Improved Quality of Life: Proper diagnosis and management significantly enhance daily living and long-term health outcomes
- Carrier Detection: Identifies asymptomatic carriers who may pass the condition to future generations
Understanding Your Test Results
Your ALDOB genetic test results will be carefully interpreted by our team of genetic specialists and metabolic physicians:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the ALDOB gene, confirming hereditary fructose intolerance. Our genetic counselors will provide comprehensive guidance on:
- Implementation of strict fructose-free diet
- Management of acute symptoms and metabolic emergencies
- Long-term monitoring for liver and kidney function
- Family member testing recommendations
Negative Result Interpretation
A negative result suggests that no known pathogenic mutations were detected in the ALDOB gene. However, this does not completely rule out fructose metabolism issues, and further metabolic testing may be recommended based on clinical presentation.
Variant of Uncertain Significance
In some cases, genetic variations of uncertain clinical significance may be identified. Our team will provide guidance on interpretation and may recommend additional family studies or follow-up testing.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- 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
- Department: Genetics
Pre-Test Requirements
Before undergoing the ALDOB Gene Fructose Intolerance NGS Genetic DNA Test, patients must complete:
- Comprehensive clinical history documentation
- Genetic counseling session with certified genetic counselor
- Development of detailed pedigree chart documenting family members affected by fructose intolerance or related metabolic disorders
Nationwide Testing Availability
We have conveniently located testing centers across the United States, serving patients 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 nationwide. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of location.
Take Control of Your Metabolic Health Today
Don’t let unexplained symptoms or family history of metabolic disorders compromise your health and quality of life. The ALDOB Gene Fructose Intolerance NGS Genetic DNA Test provides the definitive answers you need to make informed decisions about your health management.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate team of genetic specialists is ready to guide you through the testing process and help you understand your results for better health outcomes.
Early detection through genetic testing can transform lives and prevent serious complications. Take the first step toward understanding your metabolic health and achieving optimal wellness with our comprehensive ALDOB genetic testing service.
