CRELD1 Gene Atrioventricular Septal Defect Partial with Heterotaxy Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Congenital Heart and Organ Positioning Disorders
The CRELD1 Gene Atrioventricular Septal Defect Partial with Heterotaxy Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations responsible for complex congenital conditions affecting heart development and organ positioning. This specialized test provides crucial insights for families and healthcare providers managing these challenging medical conditions.
What This Advanced Genetic Test Detects
This comprehensive NGS-based DNA test specifically targets mutations in the CRELD1 (Cysteine-Rich with EGF-Like Domains 1) gene, which plays a critical role in cardiac development and left-right patterning during embryonic growth. The test identifies:
- Pathogenic variants in the CRELD1 gene associated with partial atrioventricular septal defects
- Genetic mutations linked to heterotaxy syndrome manifestations
- Inheritance patterns for family planning considerations
- Specific nucleotide changes affecting protein function
Clinical Indications: Who Should Consider Testing
This genetic test is particularly recommended for individuals presenting with:
- Newborns or children diagnosed with partial atrioventricular septal defects
- Patients exhibiting heterotaxy syndrome features including abnormal organ positioning
- Individuals with family history of congenital heart defects or heterotaxy
- Cases where standard cardiac evaluations suggest genetic involvement
- Patients undergoing pre-surgical evaluation for complex cardiac repairs
Key Benefits of Early Genetic Identification
Undergoing CRELD1 genetic testing provides numerous advantages for patients and families:
- Personalized Treatment Planning: Genetic results help tailor surgical approaches and medical management strategies
- Family Risk Assessment: Identifies inheritance patterns for genetic counseling and family planning
- Early Intervention Opportunities: Enables proactive monitoring for associated complications
- Comprehensive Care Coordination: Facilitates multidisciplinary team management
- Psychological Support: Provides clarity and reduces diagnostic uncertainty
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your CRELD1 test results:
- Positive Result: Indicates a pathogenic mutation in the CRELD1 gene, confirming genetic diagnosis and enabling targeted management
- Negative Result: Suggests no detectable CRELD1 mutation, though other genetic factors may still be involved
- Variant of Uncertain Significance: Identifies genetic changes requiring further research and clinical correlation
- Carrier Status: Determines inheritance risk for future generations
All results include detailed explanations and recommendations for next steps in consultation with your healthcare team.
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | CRELD1 Gene Atrioventricular Septal Defect Partial with Heterotaxy Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 Preparation Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to assess family inheritance patterns
- Development of detailed pedigree chart documenting affected family members
- Discussion of testing implications and potential outcomes
- Coordination with referring physician for comprehensive care planning
Nationwide Testing Accessibility
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 other cities. Our network ensures accessible genetic testing services regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized CRELD1 genetic testing provides the answers you need for informed medical decisions and comprehensive care planning. Our experienced genetic counselors and medical professionals are ready to support you through every step of the testing process.
Book your CRELD1 genetic test today or call our dedicated genetic specialists at +1(267) 388-9828 for immediate consultation and scheduling. Take control of your genetic health with confidence and clarity.
