SLC5A1 Gene Glucose Galactose Malabsorption NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The SLC5A1 Gene Glucose Galactose Malabsorption NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced test specifically targets mutations in the SLC5A1 gene, which encodes the sodium/glucose cotransporter 1 (SGLT1) protein essential for proper glucose and galactose absorption in the small intestine. When this gene malfunctions, it leads to glucose-galactose malabsorption, a serious condition that can cause life-threatening complications if left undiagnosed.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the SLC5A1 gene to identify:
- Point mutations affecting protein function
- Insertions and deletions in the genetic code
- Missense and nonsense mutations
- Splice site variants
- Frameshift mutations
- Compound heterozygous mutations
The test utilizes Next-Generation Sequencing technology, which offers superior sensitivity and specificity compared to traditional genetic testing methods. This advanced approach ensures comprehensive coverage of the entire SLC5A1 gene, including all coding regions and critical regulatory elements.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Infants with persistent watery diarrhea starting within days of birth
- Severe dehydration episodes requiring medical intervention
- Failure to thrive despite adequate calorie intake
- Family history of glucose-galactose malabsorption
- Unexplained metabolic acidosis
- Recurrent hospitalization for dehydration in infancy
- Suspected inherited metabolic disorders
- Parents planning pregnancy with family history of the condition
Clinical Benefits of Early Diagnosis
Early detection through genetic testing provides numerous advantages:
- Precise Diagnosis: Confirms glucose-galactose malabsorption with genetic evidence
- Targeted Treatment: Enables implementation of fructose-based diets
- Prevention of Complications: Reduces risk of severe dehydration and electrolyte imbalances
- Family Planning: Provides crucial information for genetic counseling
- Improved Quality of Life: Prevents unnecessary medical procedures and misdiagnoses
- Long-term Management: Supports proper nutritional planning throughout life
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Indicates pathogenic mutations in the SLC5A1 gene, confirming glucose-galactose malabsorption diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation is recommended
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of mutated gene
All results include detailed interpretation by our certified genetic counselors, who provide personalized recommendations based on your specific genetic findings and clinical presentation.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | SLC5A1 Gene Glucose Galactose Malabsorption 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Informed consent for genetic testing
- Insurance pre-authorization if applicable
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 Genetic Health Today
Don’t let uncertainty about genetic metabolic conditions affect your quality of life. Early diagnosis through our SLC5A1 genetic test can provide life-changing answers and enable proper management strategies. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Ready to Schedule Your Test?
Call our genetic testing specialists today at +1(267) 388-9828 to book your appointment or discuss your testing needs. We offer flexible scheduling and comprehensive support throughout your genetic testing journey.
Our commitment to excellence in genetic diagnostics ensures you receive the most accurate, reliable results with personalized interpretation and ongoing support. Trust General Genetics Corporation for your genetic testing needs and take the first step toward understanding your metabolic health.
