Chromosome Breakage Syndrome Test
Chromosome Breakage Syndrome Test test available at DNA Labs India for ₹9,000. Uses Cell culture on Peripheral blood samples. Results in 8-10 days. 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 Chromosome Breakage Syndrome testing is to identify mutations in genes involved in DNA repair, such as BRCA1, BRCA2, and PALB2, to confirm diagnosis, assess cancer risk, guide treatment planning, and enable family screening for early intervention.
- Test Code
- 2961
- Price
- ₹9,000
- Sample Type
- Peripheral blood
- Result Time
- 8-10 days
- Fasting Required
- No
- Method
- Cell culture
Sample Collection
A doctor's prescription is required for Chromosome Breakage Syndrome testing. Prescription is not applicable for surgery, pregnancy cases, or individuals planning to travel abroad. Ensure to inform the healthcare provider about any medications or health conditions.
Method: Blood draw
Laboratory Analysis
A blood sample will be drawn from a vein in the arm using a sterile needle and collected in a Sodium Heparin Vacutainer. The procedure is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Avoid strenuous activity with the arm for a few hours. Results will be available in 8-10 days.
Timeline: 8-10 days
Patient Instructions
About This Test
Who Should Get This Test
The purpose of Chromosome Breakage Syndrome testing is to identify mutations in genes involved in DNA repair, such as BRCA1, BRCA2, and PALB2, to confirm diagnosis, assess cancer risk, guide treatment planning, and enable family screening for early intervention.
How to Prepare
- Obtain a doctor's prescription if required
- Avoid eating or drinking for a few hours before the test if advised
- Wear loose clothing to facilitate blood draw
- Inform the phlebotomist of any allergies or bleeding disorders
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Samples without proper labeling or documentation
Understanding Your Results
No pathogenic variant detected
Normal sequence in BRCA1, BRCA2, and PALB2 genes; low risk for CBS-related mutations
Pathogenic variant detected
Mutation identified in one or more genes; confirms CBS diagnosis and indicates increased cancer risk
Variant of uncertain significance
Genetic change found but clinical significance unclear; further testing or family studies may be needed
Consult a doctor if you have a family history of Chromosome Breakage Syndrome, experience symptoms like unexplained cancers or growth abnormalities, or receive a positive test result for further management and genetic counseling.
Limitations
- ⚠This test does not detect all genetic variants associated with CBS
- ⚠Results may require confirmation with additional testing
- ⚠Interpretation depends on clinical context and family history
Risks & Considerations
- ●Minor bruising or pain at the puncture site
- ●Rare risk of infection or dizziness
- ●No significant long-term risks associated with the test
Interfering Factors
- ●Sample contamination
- ●Improper sample storage or handling
- ●Recent blood transfusions may affect results
Frequently Asked Questions
What is Chromosome Breakage Syndrome?
What are the common symptoms of Chromosome Breakage Syndrome?
How is Chromosome Breakage Syndrome diagnosed?
What is the cost of Chromosome Breakage Syndrome testing at DNA Labs India?
Is home sample collection available for this test?
What does the test package include?
How long does it take to get the test results?
Do I need a doctor's prescription for this test?
What sample type is needed for the test?
Is fasting required before the test?
What should I do if I receive a positive test result?
Are there any risks associated with the test?
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