Chromosome 7q11.23 Williams-Beuren Syndrome NGS Genetic DNA Test
Comprehensive Genetic Diagnosis for Williams-Beuren Syndrome
The Chromosome 7q11.23 Williams-Beuren Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying one of the most complex neurodevelopmental disorders affecting children and adults. Williams-Beuren syndrome is a rare genetic condition caused by a microdeletion on chromosome 7q11.23, affecting approximately 1 in 7,500 to 20,000 individuals worldwide. This sophisticated test utilizes next-generation sequencing technology to provide definitive answers for families seeking clarity about developmental concerns and medical symptoms.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based analysis specifically targets the critical region on chromosome 7q11.23 where the characteristic deletion occurs in Williams-Beuren syndrome. This region contains approximately 26-28 genes, including the elastin gene (ELN), whose deletion contributes to many of the syndrome’s cardiovascular manifestations. The test precisely identifies:
- Complete microdeletions spanning the Williams-Beuren syndrome critical region
- Partial deletions affecting specific genes within the 7q11.23 region
- Rare atypical deletions with variable breakpoints
- Gene-specific mutations that may cause Williams-Beuren-like symptoms
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This specialized genetic test is recommended for individuals presenting with characteristic features of Williams-Beuren syndrome or those with unexplained developmental concerns. Key indications include:
- Infants and Children: Unexplained developmental delays, feeding difficulties in infancy, failure to thrive, or distinctive facial features including broad forehead, short nose with broad tip, full cheeks, and wide mouth
- Cardiovascular Concerns: Supravalvular aortic stenosis, peripheral pulmonary artery stenosis, or other cardiovascular abnormalities
- Developmental Patterns: Mild to moderate intellectual disability, specific learning difficulties, exceptional verbal abilities contrasted with visual-spatial challenges
- Behavioral Characteristics: Overly friendly personality (“cocktail party” manner), anxiety, attention deficit hyperactivity disorder (ADHD), specific phobias
- Family History: Individuals with family members diagnosed with Williams-Beuren syndrome or related genetic conditions
- Unexplained Medical Issues: Hypercalcemia in infancy, connective tissue abnormalities, or growth deficiencies
Significant Benefits of Early Genetic Diagnosis
Obtaining a definitive diagnosis through our Chromosome 7q11.23 Williams-Beuren Syndrome NGS Genetic DNA Test provides numerous advantages for patients and families:
- Personalized Medical Management: Enables targeted monitoring and treatment of cardiovascular, endocrine, and developmental concerns specific to Williams-Beuren syndrome
- Early Intervention Planning: Facilitates timely access to specialized therapies including speech therapy, occupational therapy, and educational support services
- Family Planning Guidance: Provides accurate recurrence risk information for future pregnancies, as most cases occur sporadically but rare familial cases exist
- Comprehensive Care Coordination: Allows for multidisciplinary approach involving cardiologists, geneticists, developmental pediatricians, and other specialists
- Psychological Support: Helps families understand the condition’s trajectory and connect with support networks and resources
- Research Opportunities: May qualify patients for clinical trials and emerging treatments specific to Williams-Beuren syndrome
Understanding Your Test Results
Interpretation and Next Steps
Our comprehensive genetic counseling services ensure you fully understand your test results and their implications:
- Positive Result: Confirmation of a deletion in the 7q11.23 region establishes a definitive diagnosis of Williams-Beuren syndrome, enabling immediate implementation of appropriate medical surveillance and interventions
- Negative Result: Absence of the characteristic deletion suggests symptoms may be due to other genetic or non-genetic causes, guiding further diagnostic evaluation
- Atypical Findings: Rare cases may show variations requiring additional specialized testing and interpretation by our expert geneticists
- Genetic Counseling: All results are accompanied by detailed genetic counseling to discuss implications, management recommendations, and family planning considerations
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | Chromosome 7q11.23 Williams-Beuren 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 Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing accuracy and comprehensive care, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed pedigree chart of family members affected by or showing symptoms of Williams-Beuren syndrome
- Discussion of testing implications, benefits, and limitations with our genetic specialists
Nationwide Accessibility Across the United States
We proudly serve patients throughout 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 consistent, high-quality care regardless of location.
Take the First Step Toward Genetic Clarity
Don’t let uncertainty about developmental concerns or medical symptoms delay necessary interventions. Our Chromosome 7q11.23 Williams-Beuren Syndrome NGS Genetic DNA Test provides the definitive answers needed to guide appropriate medical care and support services. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your or your child’s health future.
Schedule your genetic consultation today by calling our dedicated genetics hotline at +1(267) 388-9828 or book your test online through our secure patient portal. Our compassionate team is ready to guide you through every step of the genetic testing process with expertise and care.
