SMC3 Gene Cornelia de Lange Syndrome Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Developmental Disorders
The SMC3 Gene Cornelia de Lange Syndrome Type 3 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with Cornelia de Lange Syndrome (CdLS). This sophisticated next-generation sequencing test specifically targets the SMC3 gene, which plays a critical role in chromosome cohesion and proper cellular division. Understanding these genetic factors is essential for accurate diagnosis, appropriate medical management, and informed family planning decisions.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test precisely identifies:
- Pathogenic mutations in the SMC3 gene responsible for CdLS Type 3
- Single nucleotide variants (SNVs) and small insertions/deletions
- Genetic variations affecting chromosome cohesion complex formation
- Inheritance patterns and carrier status information
- Specific mutation types that correlate with disease severity
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with:
Clinical Symptoms and Indicators
- Distinctive facial features including arched eyebrows and long eyelashes
- Growth retardation and developmental delays
- Intellectual disability ranging from mild to severe
- Upper limb abnormalities and skeletal anomalies
- Gastrointestinal complications and feeding difficulties
- Behavioral characteristics such as autism spectrum features
Family History Considerations
- Individuals with family members diagnosed with Cornelia de Lange Syndrome
- Parents planning pregnancy with known CdLS family history
- Siblings of affected individuals seeking carrier status information
- Patients with unexplained developmental disorders
Significant Benefits of Genetic Testing
Undergoing the SMC3 Gene Cornelia de Lange Syndrome Type 3 test provides numerous advantages:
Medical Management Benefits
- Accurate diagnosis enabling targeted treatment approaches
- Early intervention strategies for developmental support
- Personalized medical care based on specific genetic findings
- Improved understanding of prognosis and disease progression
- Enhanced monitoring for associated health complications
Family Planning Advantages
- Comprehensive genetic counseling for family members
- Informed reproductive decision-making
- Prenatal testing options for future pregnancies
- Carrier testing for at-risk relatives
- Family pedigree analysis and inheritance pattern clarification
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results:
Positive Result Interpretation
- Confirmation of Cornelia de Lange Syndrome Type 3 diagnosis
- Detailed explanation of specific SMC3 gene mutation
- Discussion of inheritance patterns and recurrence risks
- Personalized management recommendations
- Referral to appropriate specialists and support services
Negative Result Guidance
- Exclusion of SMC3-related CdLS Type 3
- Discussion of alternative diagnostic possibilities
- Recommendations for additional testing if indicated
- Genetic counseling for other potential genetic conditions
- Ongoing medical monitoring as appropriate
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialty: Genetics, Dermatology
- Method: Next-Generation Sequencing (NGS) Technology
Nationwide 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, and San Jose. Our network of certified genetic counselors and medical professionals ensures you receive comprehensive support throughout the testing process.
Pre-Test Preparation Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members with similar conditions
- Review of previous genetic testing results if available
- Discussion of testing implications and potential outcomes
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our SMC3 Gene Cornelia de Lange Syndrome Type 3 NGS Genetic DNA Test provides the answers you need for informed medical decisions and family planning. With our limited-time discount pricing at $500 (regularly $700), now is the perfect opportunity to gain valuable genetic insights.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate team is ready to guide you through every step of the genetic testing process with professionalism and care.
