SI Gene Sucrase-Isomaltase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Carbohydrate Malabsorption Disorders
The SI Gene Sucrase-Isomaltase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced testing methodology provides definitive answers for individuals struggling with unexplained gastrointestinal symptoms and carbohydrate intolerance. Our state-of-the-art Next-Generation Sequencing technology delivers unparalleled accuracy in identifying genetic mutations that disrupt normal digestive function.
What is Sucrase-Isomaltase Deficiency?
Sucrase-isomaltase deficiency is an inherited metabolic disorder affecting the small intestine’s ability to properly digest sucrose and starch. The condition results from mutations in the SI gene, which provides instructions for producing the sucrase-isomaltase enzyme complex. This enzyme is essential for breaking down complex carbohydrates into absorbable sugars. When deficient, undigested carbohydrates ferment in the colon, leading to uncomfortable and sometimes severe gastrointestinal symptoms.
What Does This Test Measure and Detect?
Our comprehensive NGS genetic DNA test specifically targets the SI gene to identify:
- Point mutations affecting enzyme function
- Insertion and deletion variants
- Splice site mutations disrupting protein production
- Compound heterozygous mutations
- Novel genetic variations with clinical significance
The test utilizes cutting-edge Next-Generation Sequencing technology that examines the entire coding region of the SI gene, ensuring comprehensive coverage and high detection rates for both common and rare mutations associated with sucrase-isomaltase deficiency.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is particularly recommended for individuals experiencing:
- Chronic watery diarrhea following carbohydrate consumption
- Persistent abdominal pain and cramping
- Excessive bloating and gas production
- Failure to thrive in infants and children
- Unexplained nutritional deficiencies
- Family history of carbohydrate intolerance
- Previous negative results for celiac disease and lactose intolerance
- Symptoms worsening with sucrose-containing foods
Significant Benefits of Genetic Testing
Comprehensive Diagnostic Advantages
Undergoing the SI Gene Sucrase-Isomaltase Deficiency test provides numerous benefits:
- Definitive Diagnosis: Eliminates diagnostic uncertainty and provides clear answers
- Personalized Treatment: Enables targeted dietary modifications and enzyme replacement therapy
- Family Planning: Provides genetic counseling information for family members
- Symptom Management: Guides effective symptom control strategies
- Prevention of Complications: Helps avoid long-term nutritional deficiencies
- Improved Quality of Life: Reduces unnecessary dietary restrictions and medical procedures
Understanding Your Test Results
Interpretation Guidance
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies specific SI gene mutations confirming sucrase-isomaltase deficiency
- Negative Result: No pathogenic mutations detected in the SI gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results are accompanied by detailed explanations and recommendations from our genetic counseling team. Positive results typically lead to specific dietary recommendations, including sucrose-restricted diets and potential enzyme replacement therapy options.
Test Pricing and Availability
| Test Component | Price (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
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 genetic testing facilities ensures accessible, reliable testing regardless of your location.
Take Control of Your Health Today
Don’t let unexplained gastrointestinal symptoms control your life. The SI Gene Sucrase-Isomaltase Deficiency NGS Genetic DNA Test provides the answers you need for effective management of carbohydrate malabsorption disorders. Our experienced genetic counselors are available to discuss your results and provide personalized recommendations.
Ready to schedule your test? Contact us today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and achieving better digestive wellness.
