NBN Gene Nijmegen breakage syndrome NGS Genetic Test
Short Name: NBN Gene NGS Test
Also known as: NBN Gene Mutation Test, NBS Genetic Test, Nijmegen Breakage Syndrome NGS Panel
NBN Gene Nijmegen breakage syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered 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 primary purpose of this NGS genetic test is to identify pathogenic mutations in the NBN gene to confirm or exclude a diagnosis of Nijmegen Breakage Syndrome. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with known mutations. Early diagnosis allows for timely intervention, including regular cancer screening, immunoglobulin replacement therapy, and tailored educational support, thereby improving quality of life and survival.
- Test Code
- 5865
- CPT Code
- 81408
- 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 after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation
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 or Finger-prick
Laboratory Analysis
A blood sample is drawn by a trained phlebotomist. For FTA card, a simple finger-prick is sufficient.
Report Delivery
No restrictions. The sample is sent to the laboratory for analysis.
Timeline: Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to identify pathogenic mutations in the NBN gene to confirm or exclude a diagnosis of Nijmegen Breakage Syndrome. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with known mutations. Early diagnosis allows for timely intervention, including regular cancer screening, immunoglobulin replacement therapy, and tailored educational support, thereby improving quality of life and survival.
How to Prepare
- For blood: Use EDTA tube, mix gently.
- For FTA card: Apply blood spots, air dry for 30 minutes.
- Label the sample with patient ID and date of collection.
- Transport at ambient temperature (15-25°C).
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of Nijmegen Breakage Syndrome is crucial for managing cancer risk and immune dysfunction. This NGS test provides a definitive molecular diagnosis, enabling tailored surveillance and family counseling."
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 delay without proper storage
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of Nijmegen Breakage Syndrome. Autosomal recessive inheritance. Genetic counseling recommended for family.
Negative (No pathogenic variant detected)
No evidence of NBN-related NBS. Consider other genetic causes if clinical features persist.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing of family members may help classify.
Consult a clinical geneticist or pediatrician if your child shows unexplained microcephaly, growth retardation, recurrent infections, or a family history of NBS. Also, if you are planning a pregnancy and are a known carrier, seek preconception counseling.
Limitations
- ⚠This test detects mutations only in the NBN gene; other genes causing similar phenotypes are not analyzed.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠Test does not assess functional impact of variants.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for finding variants of uncertain significance
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare genetic variants in regions not covered by the assay
Compare With Similar Tests
| Test | NBN Gene Nijmegen breakage syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted NBN Gene Sequencing (Sanger) | Chromosomal Breakage Study |
|---|---|---|---|---|
| Comparison | NBN Gene Nijmegen breakage syndrome NGS Genetic Test | WES analyzes all coding regions of the genome, whereas this test focuses only on the NBN gene. WES may identify mutations in other genes causing similar phenotypes but is more expensive and time-consuming. | Sanger sequencing is used to confirm specific known mutations, while NGS can detect novel variants across the entire gene. NGS is more comprehensive. | This cytogenetic test assesses chromosomal instability after DNA damage, but it does not identify the specific gene mutation. NGS provides molecular confirmation. |
Frequently Asked Questions
What is the cost of the NBN Gene Nijmegen Breakage Syndrome NGS Genetic Test?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
Can this test be done at home?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Is this test covered by insurance?
What is the difference between NGS and Sanger sequencing for NBN?
Can this test be used for prenatal diagnosis?
What are the symptoms of Nijmegen Breakage Syndrome?
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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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