SLC26A3 Gene Diarrhea Type 1 Secretory Chloride Congenital NGS Genetic DNA Test
Comprehensive Genetic Testing for Congenital Chloride Diarrhea
The SLC26A3 Gene Diarrhea Type 1 Secretory Chloride Congenital NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals affected by chronic diarrhea conditions. This advanced testing methodology specifically targets mutations in the SLC26A3 gene, which plays a critical role in chloride transport within the intestinal lining. When this gene malfunctions, it leads to congenital chloride diarrhea, a rare autosomal recessive disorder characterized by persistent watery diarrhea beginning in infancy.
What This Test Measures and Detects
Our comprehensive NGS genetic analysis examines the complete coding region of the SLC26A3 gene to identify pathogenic variants responsible for congenital chloride diarrhea type 1. The test specifically detects:
- Missense mutations affecting chloride transport function
- Nonsense mutations leading to premature protein termination
- Frameshift mutations disrupting gene reading frames
- Splice site variants affecting mRNA processing
- Large deletions or duplications within the SLC26A3 gene
This thorough genetic screening provides definitive diagnosis for individuals with suspected congenital chloride diarrhea, enabling appropriate medical management and family planning decisions.
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with the following clinical features:
- Infants with persistent watery diarrhea beginning in the neonatal period
- Children with chronic diarrhea containing high chloride concentrations
- Patients with metabolic alkalosis and electrolyte imbalances
- Individuals with failure to thrive despite adequate nutritional intake
- Patients with abdominal distension and polyhydramnios history
- Family members of individuals diagnosed with congenital chloride diarrhea
- Couples with family history planning pregnancy
Significant Benefits of Genetic Testing
Undergoing SLC26A3 genetic testing provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms congenital chloride diarrhea type 1, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted electrolyte replacement therapy and dietary management
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt management to prevent complications and improve quality of life
- Differential Diagnosis: Helps distinguish from other causes of chronic diarrhea
- Prognostic Information: Offers insights into disease progression and long-term management needs
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results with detailed interpretation:
- Positive Result: Identifies pathogenic mutations in the SLC26A3 gene, confirming congenital chloride diarrhea diagnosis
- Negative Result: No disease-causing variants detected, suggesting alternative diagnoses should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Detects individuals carrying one copy of mutated gene with implications for family planning
All results include detailed clinical correlation and recommendations for management. Our genetic counseling team provides comprehensive support to help you understand your results and next steps.
Test Pricing and Sample Requirements
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | SLC26A3 Gene Diarrhea Type 1 Secretory Chloride Congenital NGS Genetic DNA Test | – |
| Discount Price | Limited time special offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Results delivery | 3-4 Weeks |
| Sample Types | Blood, Extracted DNA, or Blood on FTA Card | – |
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure accurate and reliable results with rapid turnaround times.
Pre-Test Requirements and Genetic Counseling
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Family pedigree analysis to identify inheritance patterns
- Informed consent process explaining benefits and limitations
Our certified genetic counselors provide personalized guidance to help you make informed decisions about genetic testing and understand the potential outcomes.
Take Control of Your Genetic Health Today
Don’t let uncertainty about chronic diarrhea conditions affect your quality of life. Our SLC26A3 genetic testing provides definitive answers and empowers you with knowledge for better health management. With convenient testing locations nationwide and affordable pricing, there’s no reason to delay.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic health.
Our dedicated team of genetic specialists is ready to provide comprehensive support throughout your testing journey, from initial consultation to result interpretation and ongoing management recommendations.
