TTC7A Gene Intestinal Atresia Multiple NGS Genetic DNA Test
Comprehensive Genetic Analysis for Pediatric Intestinal Disorders
The TTC7A Gene Intestinal Atresia Multiple NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics, specifically designed to identify mutations in the TTC7A gene that cause multiple intestinal atresia. This rare congenital condition affects approximately 1 in 50,000 live births and presents with severe gastrointestinal complications requiring immediate medical intervention. Our advanced Next-Generation Sequencing technology provides unparalleled accuracy in detecting genetic variants responsible for this complex disorder.
What Does This Test Measure and Detect?
This specialized genetic test focuses exclusively on the TTC7A gene, which plays a critical role in intestinal development and immune system function. The test detects:
- Point mutations, deletions, and insertions in the TTC7A gene
- Autosomal recessive inheritance patterns
- Genetic variants associated with multiple intestinal atresia
- Mutations linked to combined immunodeficiency
- Genetic markers for hereditary intestinal malformations
The TTC7A gene encodes a protein essential for proper intestinal epithelial development and immune cell function. Mutations in this gene disrupt normal intestinal formation during fetal development, leading to multiple blockages throughout the digestive tract.
Who Should Consider This Genetic Test?
This test is recommended for individuals and families experiencing:
- Newborns with multiple intestinal atresia diagnosed at birth
- Infants with unexplained gastrointestinal obstructions
- Children with combined immunodeficiency and intestinal issues
- Families with a history of multiple intestinal atresia
- Siblings of affected individuals for carrier screening
- Couples with previous affected pregnancies planning future children
- Patients with suspected TTC7A-related disorders
Clinical Symptoms and Indications
Common symptoms and clinical presentations that warrant TTC7A genetic testing include:
- Multiple intestinal obstructions detected prenatally or at birth
- Recurrent infections suggesting immune deficiency
- Failure to thrive in infancy
- Abdominal distension and vomiting in newborns
- Family history of intestinal atresia or early infant mortality
- Unusual facial features or dysmorphic characteristics
Benefits of TTC7A Genetic Testing
Accurate Diagnosis and Treatment Planning
Receiving a definitive genetic diagnosis through TTC7A testing provides numerous clinical benefits:
- Precise Diagnosis: Confirms the genetic basis of intestinal atresia, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted medical and surgical interventions based on genetic findings
- Family Planning Guidance: Provides crucial information for future pregnancy decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Carrier Detection: Identifies asymptomatic family members who may carry the mutation
Advanced NGS Technology
Our test utilizes state-of-the-art Next-Generation Sequencing technology, offering:
- High sensitivity and specificity for TTC7A mutations
- Comprehensive coverage of the entire gene coding region
- Detection of both common and rare genetic variants
- Reliable results with minimal false positives or negatives
- Compliance with international quality standards
Understanding Your Test Results
Interpretation Guidelines
Your TTC7A genetic test results will fall into one of several categories:
- Positive Result: Identifies pathogenic mutations in the TTC7A gene, confirming the genetic diagnosis of multiple intestinal atresia. This result provides definitive evidence of the condition and enables appropriate medical management.
- Negative Result: No disease-causing mutations detected in the TTC7A gene. This suggests that the intestinal atresia may have a different genetic cause or non-genetic origin.
- Variant of Uncertain Significance (VUS): Identifies genetic changes whose clinical significance is currently unknown. Additional family studies may be recommended for clarification.
- Carrier Status: Identifies individuals with one copy of a mutated TTC7A gene who are typically unaffected but can pass the mutation to their children.
Post-Test Genetic Counseling
All positive results include comprehensive genetic counseling to help families understand:
- Implications for the affected individual’s health and development
- Reproductive risks and options for future pregnancies
- Testing recommendations for family members
- Available support resources and specialized care centers
- Long-term management strategies
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
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Pediatric Genetics
- Department: Genetics
- Disease Category: Dysmorphology
Nationwide Availability Across USA
We have diagnostic centers conveniently located throughout the United States, serving patients 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 counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Pre-Test Requirements
Before scheduling your TTC7A genetic test, please ensure you have:
- Complete clinical history of the patient undergoing testing
- Documentation of intestinal atresia diagnosis or symptoms
- Family medical history relevant to gastrointestinal disorders
- Genetic counseling session scheduled to create a detailed pedigree chart
- Informed consent for genetic testing
Take Action Today for Genetic Clarity
Don’t let uncertainty about your child’s intestinal condition continue. The TTC7A Gene Intestinal Atresia Multiple NGS Genetic DNA Test provides the definitive answers you need for proper medical management and family planning. Our specialized genetic testing offers peace of mind and clinical guidance for complex pediatric conditions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and test appointment. Our compassionate genetic specialists are ready to guide you through the testing process and help you understand your results.
Early genetic diagnosis can significantly impact treatment outcomes and quality of life for children with TTC7A-related disorders. Take the first step toward genetic clarity and informed medical decisions by booking your test today.
