FISH Microdeletion Detection for Williams Syndrome Test
Comprehensive Genetic Testing for Williams Syndrome Diagnosis
The FISH Microdeletion Detection for Williams Syndrome Test represents a cutting-edge diagnostic approach for identifying Williams syndrome, a rare genetic condition affecting multiple body systems. This specialized test provides definitive answers for families and healthcare providers seeking accurate diagnosis of this complex disorder.
What is Williams Syndrome?
Williams syndrome is a rare neurodevelopmental disorder caused by a microdeletion on chromosome 7q11.23. This deletion involves approximately 26-28 genes, including the elastin gene (ELN), which plays a crucial role in cardiovascular health and connective tissue formation. The condition occurs spontaneously in most cases and affects individuals regardless of ethnic background or geographic location.
What Does the Test Detect?
The FISH Microdeletion Detection test specifically identifies the characteristic deletion associated with Williams syndrome using advanced Fluorescence In Situ Hybridization technology:
- Chromosome 7q11.23 Deletion: Detects the absence of the elastin gene and surrounding genetic material
- Microdeletion Confirmation: Provides visual confirmation of the missing genetic segment
- Diagnostic Accuracy: Offers over 99% accuracy in detecting Williams syndrome
- Genetic Marker Identification: Pinpoints the specific chromosomal abnormality responsible for the condition
Who Should Consider This Test?
Clinical Indications and Symptoms
This test is recommended for individuals displaying characteristic features of Williams syndrome, including:
- Distinctive Facial Features: Broad forehead, short nose with broad tip, full cheeks, wide mouth with full lips
- Cardiovascular Concerns: Heart murmurs, supravalvular aortic stenosis, pulmonary stenosis
- Developmental Delays: Mild to moderate intellectual disability, learning difficulties
- Behavioral Characteristics: Overly friendly personality, anxiety, attention deficit
- Medical Symptoms: Hypercalcemia (elevated blood calcium), feeding difficulties in infancy, growth delays
- Family History: Previous diagnosis in family members or suspicion of genetic condition
Benefits of FISH Microdeletion Testing
Comprehensive Diagnostic Advantages
- Early Intervention: Enables prompt medical management and therapeutic interventions
- Accurate Diagnosis: Provides definitive confirmation of Williams syndrome
- Family Planning: Offers genetic counseling information for future pregnancies
- Medical Management: Guides appropriate monitoring for cardiovascular and other health concerns
- Educational Planning: Supports development of appropriate educational strategies
- Psychological Support: Helps families understand and prepare for behavioral characteristics
Understanding Your Test Results
Interpreting FISH Microdeletion Detection Findings
Your test results will provide clear information about the presence or absence of the Williams syndrome deletion:
- Positive Result: Confirms diagnosis of Williams syndrome, indicating the characteristic deletion on chromosome 7q11.23 is present
- Negative Result: Suggests Williams syndrome is unlikely, though clinical correlation with symptoms is essential
- Inconclusive Result: Rare cases may require additional testing or repeat analysis
All results are accompanied by detailed interpretation from our certified genetic counselors and cytogenetic specialists. We recommend discussing results with your healthcare provider to develop an appropriate management plan.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | FISH Microdeletion Detection for Williams Syndrome Test |
| Discount Price | $212 USD |
| Regular Price | $300 USD |
| Turnaround Time | Sample Daily by 4 pm; Report 4 Working days |
| Sample Type | 5 mL (3 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube |
| Shipping Requirements | Ship at 18-22°C. DO NOT FREEZE |
| Required Documentation | Duly filled Chromosome & FISH analysis Requisition Form (Form 17) is mandatory |
Nationwide Testing Availability
We have branches across the United States, making genetic testing accessible to patients in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified laboratories ensures consistent, high-quality testing standards nationwide.
Take the Next Step Toward Diagnosis
If you suspect Williams syndrome in yourself or a family member, don’t delay in seeking accurate genetic testing. Early diagnosis can significantly improve quality of life through appropriate medical management and support services.
Book your FISH Microdeletion Detection for Williams Syndrome Test today by calling our genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Our specialists are available to answer your questions and guide you through the testing process.
Take control of your genetic health with reliable, accurate testing from General Genetics Corporation – your trusted partner in genetic diagnostics.
