SPINT2 Gene Diarrhea Type 3 Secretory Sodium Congenital Syndromic NGS Genetic DNA Test
Comprehensive Genetic Testing for Congenital Sodium Diarrhea
The SPINT2 Gene Diarrhea Type 3 Secretory Sodium Congenital Syndromic NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare gastrointestinal disorders. This advanced genetic test specifically targets mutations in the SPINT2 gene, which plays a critical role in intestinal sodium absorption and fluid balance regulation. Congenital sodium diarrhea type 3 is a rare autosomal recessive condition characterized by persistent, life-threatening diarrhea beginning in the neonatal period.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the SPINT2 gene to identify:
- Pathogenic variants and mutations in the SPINT2 gene
- Single nucleotide polymorphisms associated with congenital sodium diarrhea
- Copy number variations affecting gene function
- Autosomal recessive inheritance patterns
- Specific genetic markers for secretory sodium diarrhea type 3
Who Should Consider This Test
This specialized genetic test is recommended for individuals presenting with:
- Persistent watery diarrhea beginning in infancy or early childhood
- Chronic dehydration and electrolyte imbalances
- Failure to thrive despite adequate nutritional intake
- Family history of congenital diarrhea disorders
- Unexplained metabolic acidosis
- Developmental delays associated with chronic gastrointestinal symptoms
- Suspected inherited sodium transport defects
Clinical Benefits of SPINT2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out congenital sodium diarrhea type 3 with high accuracy
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt management to prevent complications
- Prognostic Information: Helps predict disease course and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic SPINT2 mutations confirming congenital sodium diarrhea type 3 diagnosis
- Negative Result: Suggests absence of detectable SPINT2 mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines if individuals carry one copy of mutated gene without showing symptoms
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Genetic Health Today
Don’t let unexplained gastrointestinal symptoms compromise your quality of life. Our SPINT2 Gene Diarrhea Type 3 NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. With rapid turnaround times of 3-4 weeks and comprehensive genetic counseling support, we’re committed to helping you understand your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or book your test online. Our genetic specialists are ready to assist you with personalized care and expert guidance.
