Williams Syndrome Karyotyping FISH Test
Comprehensive Genetic Diagnosis for Williams Syndrome
Williams Syndrome Karyotyping FISH represents a sophisticated genetic testing approach that combines traditional chromosomal analysis with advanced molecular techniques to provide definitive diagnosis of Williams Syndrome. This condition, also known as Williams-Beuren Syndrome, is a rare genetic disorder affecting approximately 1 in 7,500 to 20,000 individuals worldwide. Our comprehensive testing methodology ensures the highest level of diagnostic accuracy for this complex genetic condition.
What Does the Williams Syndrome Karyotyping FISH Test Detect?
This specialized genetic test specifically identifies the characteristic microdeletion on the long arm of chromosome 7 (7q11.23) that causes Williams Syndrome. The deletion involves approximately 26-28 genes, including the elastin gene (ELN), which plays a crucial role in cardiovascular development and connective tissue formation. Our dual-methodology approach provides:
- Karyotyping analysis for overall chromosomal structure evaluation
- FISH technology for precise detection of the 7q11.23 microdeletion
- Comprehensive assessment of genetic material integrity
- High-resolution detection of missing genetic segments
Who Should Consider Williams Syndrome Testing?
This genetic test is recommended for individuals presenting with characteristic features or symptoms suggestive of Williams Syndrome, including:
- Infants and children with unexplained developmental delays
- Individuals with distinctive facial features (“elfin” appearance)
- Patients diagnosed with supravalvular aortic stenosis or other cardiovascular abnormalities
- Children exhibiting hypercalcemia (elevated blood calcium levels)
- Individuals with unique personality traits including extreme sociability and empathy
- Patients with connective tissue disorders and joint hypermobility
- Those with growth deficiencies and feeding difficulties in infancy
Clinical Benefits of Williams Syndrome Karyotyping FISH
Early and accurate diagnosis through our comprehensive testing provides numerous clinical advantages:
- Early Intervention Planning: Enables timely implementation of developmental therapies and educational support
- Cardiovascular Management: Facilitates appropriate cardiac monitoring and treatment planning
- Nutritional Guidance: Helps manage calcium and vitamin D metabolism issues
- Family Planning: Provides genetic counseling information for family members
- Medical Surveillance: Establishes baseline for ongoing health monitoring
- Educational Support: Guides appropriate academic accommodations and learning strategies
Understanding Your Test Results
Our comprehensive report provides clear interpretation of your Williams Syndrome Karyotyping FISH results:
- Positive Result: Confirms the presence of the 7q11.23 microdeletion, establishing a definitive diagnosis of Williams Syndrome
- Negative Result: Indicates absence of the characteristic deletion, though clinical evaluation remains important
- Inconclusive Result: May require additional testing or clinical correlation
- Variant Findings: Any unusual chromosomal patterns are thoroughly documented and explained
All results are accompanied by detailed explanations and recommendations for next steps. Our genetic counselors are available to help you understand your results and their implications for medical management and family planning.
Test Pricing and Availability
| Test Component | Regular Price | Discount Price |
|---|---|---|
| Williams Syndrome Karyotyping FISH | $276 USD | $206 USD |
Test Specifications
- Turnaround Time: 7-10 days
- Sample Type: Peripheral blood
- Collection Requirements: Sodium heparin Vacutainer (2ml)
- Methodology: Cell Culture + FISH (Fluorescence In Situ Hybridization)
- Specialty: Genetic Testing
Pre-Test Instructions
Williams Syndrome Karyotyping FISH testing requires a Doctor’s prescription for most cases. Prescription requirements do not apply for surgical cases, pregnancy-related testing, or individuals planning international travel. Our experienced phlebotomy team ensures comfortable sample collection with minimal discomfort.
Nationwide Testing Availability
We have diagnostic centers conveniently located across 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 other cities. Our network of certified laboratories ensures consistent, high-quality testing standards nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions delay appropriate medical care and intervention. Our Williams Syndrome Karyotyping FISH test provides the definitive answers you need for informed healthcare decisions. With our current promotional pricing at only $206 USD, comprehensive genetic testing has never been more accessible.
Ready to schedule your test? Contact our genetic testing specialists today:
Call or WhatsApp: +1(267) 388-9828
Our knowledgeable team is available to answer your questions, assist with scheduling, and provide guidance throughout the testing process. Take control of your genetic health journey with confidence and clarity.
