KHK Gene Fructosuria Essential NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Fructosuria
The KHK Gene Fructosuria Essential NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, specifically designed to identify mutations in the KHK (ketohexokinase) gene that cause hereditary fructosuria. This rare autosomal recessive condition affects the body’s ability to properly metabolize fructose, leading to potentially serious health complications when left undiagnosed. Our advanced testing methodology provides definitive answers for individuals and families affected by this metabolic condition.
What This Test Measures and Detects
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the KHK gene for pathogenic variants. The test specifically identifies:
- Point mutations and single nucleotide variants in the KHK gene
- Small insertions and deletions affecting gene function
- Copy number variations that may impact enzyme production
- Specific genetic markers associated with hereditary fructosuria
- Carrier status for family members and genetic counseling purposes
Who Should Consider This Essential Genetic Test
This test is particularly recommended for individuals experiencing the following symptoms or circumstances:
- Unexplained hypoglycemia following fructose consumption
- Recurrent episodes of nausea, vomiting, or abdominal pain after eating fruits
- Family history of metabolic disorders or unexplained liver issues
- Elevated fructose levels in urine tests without clear explanation
- Children with failure to thrive or developmental delays linked to dietary patterns
- Individuals planning pregnancy with family history of metabolic conditions
- Patients with unexplained liver enlargement or dysfunction
Significant Benefits of KHK Genetic Testing
Undergoing the KHK Gene Fructosuria Essential NGS Genetic DNA Test provides numerous critical advantages:
- Definitive Diagnosis: Obtain clear confirmation or exclusion of hereditary fructosuria
- Personalized Treatment Planning: Develop targeted dietary management strategies
- Family Planning Guidance: Make informed decisions about genetic risks to future children
- Early Intervention: Prevent serious complications through timely dietary modifications
- Comprehensive Genetic Counseling: Receive expert guidance on managing your condition
- Peace of Mind: Eliminate uncertainty about metabolic symptoms and their causes
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and metabolic specialists. Results typically fall into three categories:
- Positive Result: Indicates the presence of pathogenic mutations in the KHK gene, confirming hereditary fructosuria diagnosis
- Negative Result: Suggests no disease-causing variants were detected, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical impact requires further investigation
All positive results include detailed recommendations for dietary management, follow-up testing, and family member screening. Our genetic counseling team provides comprehensive support to help you understand and implement your results effectively.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Nationwide Testing Availability
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 Metabolic Health Today
Don’t let unexplained metabolic symptoms compromise your quality of life. The KHK Gene Fructosuria Essential NGS Genetic DNA Test provides the clarity needed to manage your health effectively. Our team of genetic specialists, metabolic physicians, and certified counselors are ready to support you through every step of the testing process.
Ready to schedule your test? Contact our genetic testing specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your metabolic health and ensuring optimal wellness for you and your family.
