DiGeorge Syndrome FISH Test
Comprehensive Genetic Testing for 22q11.2 Deletion
The DiGeorge Syndrome FISH Test represents a cutting-edge approach to genetic diagnosis, utilizing Fluorescence In Situ Hybridization (FISH) technology to detect the specific chromosomal deletion responsible for DiGeorge syndrome. This condition, also known as 22q11.2 deletion syndrome, affects multiple body systems and requires accurate diagnosis for proper medical management.
What Does the DiGeorge Syndrome FISH Test Detect?
This specialized genetic test specifically identifies the deletion of a small segment on chromosome 22 at position q11.2. The FISH methodology employs fluorescent DNA probes that bind to specific chromosomal regions, allowing visualization of the targeted genetic material under a fluorescence microscope. When the 22q11.2 region is missing, the absence of fluorescence signal confirms the deletion diagnosis.
- Detects microdeletion at chromosome 22q11.2
- Identifies genetic basis for DiGeorge syndrome
- Provides definitive diagnosis for complex symptoms
- Enables early intervention and treatment planning
Who Should Consider This Test?
The DiGeorge Syndrome FISH Test is recommended for individuals presenting with characteristic symptoms or clinical features associated with 22q11.2 deletion syndrome. Consider this test if you or your child exhibits:
- Congenital heart defects, particularly conotruncal abnormalities
- Immune system deficiencies and recurrent infections
- Cleft palate or other palatal abnormalities
- Developmental delays and learning disabilities
- Hypocalcemia (low calcium levels)
- Distinctive facial features associated with the syndrome
- Family history of DiGeorge syndrome or related conditions
Key Benefits of DiGeorge Syndrome FISH Testing
Choosing the DiGeorge Syndrome FISH Test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: FISH technology offers high specificity and sensitivity for detecting the 22q11.2 deletion
- Rapid Results: Receive comprehensive findings within one week of sample collection
- Multiple Sample Options: Testing available through peripheral blood, amniotic fluid, chorionic villi, or cord blood specimens
- Comprehensive Analysis: Detailed reporting with clear interpretation of results
- Treatment Guidance: Results help direct appropriate medical interventions and management strategies
Understanding Your Test Results
Your DiGeorge Syndrome FISH Test results will clearly indicate whether the 22q11.2 deletion is present or absent:
- Positive Result: Confirms the presence of 22q11.2 deletion, indicating DiGeorge syndrome diagnosis
- Negative Result: No deletion detected at the 22q11.2 region
- Inconclusive Result: May require additional testing or repeat analysis
All positive results should be discussed with a genetic counselor or healthcare provider to understand implications for treatment, management, and family planning. Our team provides comprehensive result interpretation support to ensure you fully understand your genetic findings.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| DiGeorge Syndrome FISH Test | $132 USD | $176 USD |
Nationwide Testing Availability
GGC DNA provides comprehensive DiGeorge Syndrome FISH testing services across the United States, with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Pre-Test Instructions
The DiGeorge Syndrome FISH test requires a physician’s prescription for most cases. However, prescription requirements do not apply for surgical procedures, pregnancy-related testing, or individuals planning international travel. Our team will guide you through the necessary preparation steps based on your specific testing needs.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about DiGeorge syndrome. Our expert genetic testing team is ready to help you understand your genetic profile and make informed healthcare decisions. With rapid turnaround times and comprehensive support, GGC DNA makes genetic testing accessible and understandable.
Book your DiGeorge Syndrome FISH Test today by calling our dedicated genetics team at +1(267) 388-9828 or schedule your appointment online. Take the first step toward comprehensive genetic understanding and personalized medical care.
