DDX11 Gene Warsaw breakage syndrome NGS Genetic Test
Short Name: DDX11 NGS Test
Also known as: WABS Genetic Test, DDX11 Gene Sequencing
DDX11 Gene Warsaw breakage 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 Reports are delivered within 3 to 4 weeks from the date of sample receipt.. 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 test is to identify pathogenic mutations in the DDX11 gene that cause Warsaw Breakage Syndrome. It is indicated for individuals presenting with clinical features suggestive of WABS, such as microcephaly, growth delay, skeletal anomalies, recurrent infections, and pigmentary changes. The test also aids in carrier detection for at-risk family members and provides essential information for reproductive planning.
- Test Code
- 5980
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.
Method: Venipuncture / Finger Prick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using standard venipuncture technique. For FTA card, a few drops of blood are placed on the card and allowed to dry.
Report Delivery
No specific aftercare is needed. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are delivered within 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the DDX11 gene that cause Warsaw Breakage Syndrome. It is indicated for individuals presenting with clinical features suggestive of WABS, such as microcephaly, growth delay, skeletal anomalies, recurrent infections, and pigmentary changes. The test also aids in carrier detection for at-risk family members and provides essential information for reproductive planning.
How to Prepare
- Ensure the patient's identity is verified with two identifiers.
- Use EDTA vacutainer for blood collection; mix gently to prevent clotting.
- If using FTA card, apply blood drops to the designated circles and air dry completely.
- Label the sample with patient name, date, and unique ID.
- Transport the sample to the lab within 24-48 hours; avoid extreme temperatures.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early diagnosis of Warsaw Breakage Syndrome is crucial for managing complications. This NGS test provides a definitive genetic answer."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time (>72 hours) without proper storage
Understanding Your Results
Positive (Pathogenic variant)
Confirms the diagnosis of Warsaw Breakage Syndrome. Genetic counseling is recommended for the family.
Action: Discuss management options, surveillance for infections and malignancies, and reproductive options.
Negative (No pathogenic variant)
No mutation detected in the DDX11 gene. However, clinical suspicion may warrant testing of other genes.
Action: Consider alternative diagnoses or further genetic testing.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown.
Action: Further familial testing and functional studies may be needed to clarify.
Consult a clinical geneticist or pediatrician if you or your child exhibit symptoms such as microcephaly, growth retardation, recurrent infections, or unusual skin pigmentation. Early referral for genetic testing can aid in diagnosis and management.
Limitations
- ⚠This test detects mutations in the coding regions and splice sites of the DDX11 gene; deep intronic variants or large deletions/duplications may not be identified.
- ⚠Variant of uncertain significance (VUS) may be reported; further familial segregation analysis may be required.
- ⚠This test does not assess other genes associated with similar phenotypes.
- ⚠Negative result does not completely rule out Warsaw Breakage Syndrome if clinical suspicion is high; other genetic causes should be considered.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for variants of uncertain significance causing anxiety
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion (may dilute patient's DNA)
Compare With Similar Tests
| Test | DDX11 Gene Warsaw breakage syndrome NGS Genetic Test | Chromosomal Breakage Study | Whole Exome Sequencing | Sanger Sequencing for DDX11 |
|---|---|---|---|---|
| Comparison | DDX11 Gene Warsaw breakage syndrome NGS Genetic Test | Detects chromosomal instability but does not identify the specific gene. DDX11 NGS provides a molecular diagnosis. | Screens all genes but is more expensive and may have longer turnaround. Targeted DDX11 test is cost-effective for suspected WABS. | Targeted single-gene test but less comprehensive than NGS for detecting mosaicism or multiple variants. |
Frequently Asked Questions
What is Warsaw Breakage Syndrome?
How is the DDX11 gene test performed?
What is the cost of the DDX11 NGS test?
Is fasting required before the test?
How long does it take to get results?
What sample types are accepted?
Is home sample collection available?
What does a positive result mean?
Can this test detect carriers?
Are there any risks associated with the test?
Will insurance cover the cost?
Who should consider this test?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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