William's Syndrome (Karyotyping+FISH) Test
Short Name: Williams Syndrome Karyotyping+FISH
Also known as: Williams-Beuren Syndrome
William's Syndrome (Karyotyping+FISH) Test test available at DNA Labs India for ₹8,250. Uses Cell Culture, FISH Analysis on Peripheral blood samples. Results in 7-10 days. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose Williams Syndrome by detecting deletion on chromosome 7q11.23 through karyotyping and FISH analysis, enabling early management and intervention.
- Test Code
- 3236
- Price
- ₹8,250
- Sample Type
- Peripheral blood
- Result Time
- 7-10 days
- Fasting Required
- No
- Method
- Cell Culture, FISH Analysis
Sample Collection
No special preparation is required. Ensure a doctor's prescription is available if applicable.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm using standard venipuncture technique.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Resume normal activities unless advised otherwise.
Timeline: 7-10 days
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Williams Syndrome by detecting deletion on chromosome 7q11.23 through karyotyping and FISH analysis, enabling early management and intervention.
How to Prepare
- Verify patient identity and prescription
- Use sodium heparin vacutainer for sample collection
- Label sample correctly with patient details
- Transport sample at ambient or cool temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis of Williams Syndrome through genetic testing is crucial for timely intervention and management of symptoms, improving quality of life."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect container or labeling
Understanding Your Results
Positive (Deletion detected)
Indicative of Williams Syndrome. Consult a geneticist for further evaluation and management.
Negative (No deletion detected)
Williams Syndrome unlikely based on this test. Clinical correlation recommended if symptoms persist.
If test results are positive or if symptoms of Williams Syndrome are present, consult a healthcare professional or geneticist immediately for guidance.
Limitations
- ⚠May not detect all genetic variants or mosaicism
- ⚠Results require confirmation with clinical evaluation
- ⚠Limited to detection of deletion on chromosome 7q11.23
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection at the puncture site
Interfering Factors
- ●Sample contamination
- ●Improper sample collection or handling
- ●Insufficient sample volume
Compare With Similar Tests
| Test | William's Syndrome (Karyotyping+FISH) | Chromosomal Microarray Analysis | Standard Karyotyping |
|---|---|---|---|
| Comparison | William's Syndrome (Karyotyping+FISH) | Detects smaller deletions/duplications genome-wide, but may be more costly. | Identifies large chromosomal abnormalities but lacks specificity for Williams Syndrome. |
Frequently Asked Questions
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