chr. 7q11.23 Gene Williams-Beuren syndrome NGS Genetic Test
Short Name: WBS NGS Genetic Test
Also known as: Williams Syndrome Genetic Test, 7q11.23 Deletion NGS, WBS NGS Panel
chr. 7q11.23 Gene Williams-Beuren syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to confirm a clinical diagnosis of Williams-Beuren syndrome by detecting the characteristic deletion in the 7q11.23 region. It is also used for prenatal diagnosis in at-risk pregnancies, carrier testing, and to provide genetic information for family planning. Early and accurate diagnosis enables timely intervention for cardiovascular, developmental, and behavioral issues, improving long-term outcomes.
- Test Code
- 5990
- CPT Code
- 81405
- ICD Code
- Q93.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. If using FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare is needed. The sample will be sent to the laboratory for analysis.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to confirm a clinical diagnosis of Williams-Beuren syndrome by detecting the characteristic deletion in the 7q11.23 region. It is also used for prenatal diagnosis in at-risk pregnancies, carrier testing, and to provide genetic information for family planning. Early and accurate diagnosis enables timely intervention for cardiovascular, developmental, and behavioral issues, improving long-term outcomes.
How to Prepare
- For blood sample: Use EDTA vacutainer, fill to the indicated mark, and mix gently.
- For FTA card: Apply one drop of blood onto the designated circle and allow to air dry.
- Label the sample with patient's name, date of birth, and collection date.
- Transport the sample at ambient temperature to the laboratory within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of Williams-Beuren syndrome is crucial for timely cardiovascular and developmental interventions. This NGS test provides precise detection of the 7q11.23 deletion, enabling personalized management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit time without proper storage
Understanding Your Results
No deletion detected
Normal result. No evidence of Williams-Beuren syndrome. If clinical suspicion remains, other genetic tests may be considered.
Deletion detected
Positive for Williams-Beuren syndrome. The size of the deletion may be reported. Clinical correlation and family counseling are advised.
If you or your child exhibit symptoms suggestive of Williams-Beuren syndrome, such as developmental delay, distinctive facial features, or heart problems, consult a pediatrician or geneticist for evaluation and possible testing.
Limitations
- ⚠This test detects deletions in the 7q11.23 region only; other genetic causes of similar phenotypes are not evaluated.
- ⚠Rare atypical deletions may not be detected by standard NGS analysis.
- ⚠Results should be interpreted in conjunction with clinical findings and genetic counseling.
- ⚠This test does not assess the severity of symptoms or predict future clinical course.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Emotional distress from receiving a genetic diagnosis
- ●Potential for incidental findings (unrelated genetic variants)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Maternal cell contamination in prenatal samples
- ●Low DNA concentration
- ●Presence of mosaicism (may be missed)
Compare With Similar Tests
| Test | chr. 7q11.23 Gene Williams-Beuren syndrome NGS Genetic Test | Chromosomal Microarray (CMA) | FISH (Fluorescence In Situ Hybridization) | MLPA (Multiplex Ligation-dependent Probe Amplification) |
|---|---|---|---|---|
| Comparison | chr. 7q11.23 Gene Williams-Beuren syndrome NGS Genetic Test | CMA can detect larger deletions and duplications across the genome, but may miss small deletions within the 7q11.23 region. NGS offers higher resolution for this specific region. | FISH is targeted and can detect the 7q11.23 deletion, but it requires prior clinical suspicion and does not provide information on deletion size. NGS provides more detailed analysis. | MLPA is a cost-effective method for detecting deletions/duplications in specific regions, but it is less comprehensive than NGS, which can also identify sequence variants. |
Frequently Asked Questions
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