RAD21 Gene Cornelia de Lange Syndrome Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Cornelia de Lange Syndrome
The RAD21 Gene Cornelia de Lange Syndrome Type 4 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the RAD21 gene, which are responsible for Cornelia de Lange syndrome type 4 (CdLS4). This sophisticated genetic analysis utilizes next-generation sequencing technology to provide accurate and reliable results for individuals and families affected by this complex developmental disorder.
What Does This Test Measure?
This advanced genetic test specifically targets the RAD21 gene, which plays a critical role in chromosome cohesion and proper cell division. The test detects:
- Pathogenic variants and mutations in the RAD21 gene
- Single nucleotide polymorphisms (SNPs) associated with CdLS4
- Copy number variations affecting RAD21 gene function
- Structural abnormalities in the chromosomal region containing RAD21
Who Should Consider This Test?
This genetic test is recommended for individuals displaying symptoms consistent with Cornelia de Lange syndrome, including:
- Distinctive facial features (arched eyebrows, long eyelashes, thin lips)
- Growth retardation and developmental delays
- Intellectual disability ranging from mild to severe
- Upper limb abnormalities (small hands, missing fingers)
- Gastrointestinal issues and feeding difficulties
- Hearing loss and vision problems
- Behavioral characteristics including autism spectrum features
Clinical Benefits of RAD21 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Cornelia de Lange syndrome type 4
- Family Planning: Enables informed reproductive decisions for at-risk families
- Personalized Treatment: Guides appropriate medical management and interventions
- Early Intervention: Facilitates timely therapeutic approaches for better outcomes
- Genetic Counseling: Provides essential information for family members
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates the presence of RAD21 gene mutation associated with CdLS4
- Negative Result: Suggests no detectable RAD21 mutation, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | RAD21 Gene Cornelia de Lange Syndrome Type 4 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 Requirements
Before undergoing testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our specialists
- Development of a detailed family pedigree chart
- Discussion of potential outcomes and implications
Nationwide Testing Availability
We have diagnostic centers conveniently located 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 network ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our RAD21 Gene Cornelia de Lange Syndrome Type 4 NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. Contact our genetic specialists today to schedule your test and begin your journey toward genetic understanding.
Call or WhatsApp us now at +1(267) 388-9828 to book your comprehensive genetic analysis or to speak with our genetic counseling team.
