FISH 22q Deletion or LSI DiGeorge VCFS Test
Comprehensive Genetic Screening for Chromosome 22q11.2 Deletions
The FISH 22q Deletion or LSI DiGeorge VCFS Test represents a cornerstone in modern genetic diagnostics, specifically designed to detect microdeletions on chromosome 22q11.2. This sophisticated testing methodology utilizes Fluorescence In Situ Hybridization (FISH) technology to provide unparalleled accuracy in identifying genetic abnormalities associated with DiGeorge Syndrome and Velocardiofacial Syndrome (VCFS).
What This Advanced Genetic Test Measures
This specialized diagnostic test precisely targets and identifies the deletion of genetic material on the long arm of chromosome 22 at position 22q11.2. The test specifically detects:
- Microdeletions in the 22q11.2 chromosomal region
- Genetic abnormalities associated with DiGeorge Syndrome
- Chromosomal variations linked to Velocardiofacial Syndrome
- Specific LSI (Locus Specific Identifier) probe signals for accurate detection
Who Should Consider This Genetic Screening?
This test is particularly recommended for individuals presenting with symptoms or clinical features suggestive of 22q11.2 deletion syndromes:
- Newborns with congenital heart defects, particularly conotruncal anomalies
- Children with cleft palate or velopharyngeal insufficiency
- Individuals with hypocalcemia or parathyroid abnormalities
- Patients with immune system deficiencies or recurrent infections
- Children showing developmental delays or learning disabilities
- Individuals with characteristic facial features associated with 22q11.2 deletions
- Those with family history of DiGeorge Syndrome or VCFS
Significant Benefits of Early Detection
Undergoing the FISH 22q Deletion test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive confirmation of 22q11.2 deletion syndromes
- Early Intervention: Enables timely medical management and treatment planning
- Family Planning: Offers valuable information for genetic counseling and family planning decisions
- Comprehensive Care: Facilitates multidisciplinary approach to patient management
- Prognostic Information: Helps predict potential health challenges and developmental outcomes
Understanding Your Test Results
Our comprehensive reporting system provides clear, understandable results:
- Positive Result: Indicates the presence of a 22q11.2 deletion, confirming DiGeorge Syndrome or VCFS diagnosis
- Negative Result: Suggests absence of the specific deletion, though other genetic conditions may need consideration
- Inconclusive Result: May require additional testing or follow-up evaluation
All results are accompanied by detailed interpretation from our board-certified genetic specialists, ensuring you receive comprehensive guidance for next steps.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| FISH 22q Deletion or LSI DiGeorge VCFS Test | $200 USD | $300 USD |
Nationwide Testing Accessibility
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and Midwest regions
- Houston and Texas locations
- Miami and Florida centers
- And many additional locations nationwide
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our expert team of genetic counselors and cytogenetic specialists are ready to provide the answers you need. With rapid turnaround times of just 4 working days and state-of-the-art FISH technology, you can trust our laboratory for accurate, reliable results.
Ready to schedule your test? Contact us today at +1(267) 388-9828 or book your appointment online. Our genetic specialists are available to answer your questions and guide you through the testing process.
Sample Requirements: 5 mL (3 mL minimum) whole blood from 1 Green Top (Sodium Heparin) tube. Ship at 18-22°C. DO NOT FREEZE. Duly filled Chromosome & FISH analysis Requisition Form (Form 17) is mandatory.
Turnaround Time: Sample Daily by 4 pm; Report 4 Working Days

