RECQL Gene Breast cancer, susceptibility to NGS Genetic Test
Short Name: RECQL Gene NGS Test
Also known as: RECQL Mutation Test, RECQL Gene Analysis, Breast Cancer Genetic Screening
RECQL Gene Breast cancer, susceptibility to NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. 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
The purpose of the RECQL Gene Breast Cancer Susceptibility NGS Genetic Test is to identify mutations in the RECQL gene that may increase an individual's risk of developing breast cancer. This test aids in early risk assessment, enabling personalized medical interventions, enhanced surveillance, and informed decision-making for prevention strategies.
- Test Code
- 2844
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS (Next-Generation Sequencing)
Sample Collection
Genetic counseling is recommended to discuss family history, test implications, and potential outcomes. Provide clinical history and pedigree chart of affected family members.
Method: Venipuncture
Laboratory Analysis
Blood sample will be collected via venipuncture by a trained phlebotomist. For FTA card, a single drop of blood is sufficient.
Report Delivery
Sample is labeled, stored at ambient temperature, and transported to the laboratory for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the RECQL Gene Breast Cancer Susceptibility NGS Genetic Test is to identify mutations in the RECQL gene that may increase an individual's risk of developing breast cancer. This test aids in early risk assessment, enabling personalized medical interventions, enhanced surveillance, and informed decision-making for prevention strategies.
How to Prepare
- Ensure proper patient identification and sample labeling
- Use sterile equipment to avoid contamination
- For blood samples, collect in EDTA tube and mix gently
- For FTA card, apply one drop of blood and allow to dry completely
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for RECQL mutations is crucial for women with a family history of breast cancer, enabling personalized screening and prevention strategies to reduce risk."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted blood samples
- Improperly labeled or unlabeled samples
- Contaminated samples
Understanding Your Results
Negative (No pathogenic variant detected)
No mutations in the RECQL gene were identified. This does not eliminate breast cancer risk entirely, as other genetic or environmental factors may contribute.
Positive (Pathogenic variant detected)
A mutation in the RECQL gene was found, indicating an increased risk of breast cancer. Enhanced screening and preventive measures are recommended.
Variant of Uncertain Significance (VUS)
A genetic variant was detected, but its clinical significance is unknown. Further testing and family studies may be needed for clarification.
Consult a doctor if you have a family history of breast cancer, experience symptoms such as breast lumps or changes, or receive a positive test result for personalized risk management and screening plans.
Limitations
- ⚠Test only analyzes the RECQL gene; other breast cancer susceptibility genes are not covered
- ⚠Results do not guarantee cancer development or absence
- ⚠Genetic variants of uncertain significance (VUS) may be identified, requiring further evaluation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or discomfort at the collection site
- ●Psychological impact of test results, requiring genetic counseling support
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection or processing
- ●Recent blood transfusions may affect DNA analysis
Compare With Similar Tests
| Test | RECQL Gene Breast cancer, susceptibility to NGS Genetic Test | BRCA1/2 Gene Test | Comprehensive Hereditary Cancer Panel |
|---|---|---|---|
| Comparison | RECQL Gene Breast cancer, susceptibility to NGS Genetic Test | Focuses on BRCA1 and BRCA2 genes, which are more commonly associated with hereditary breast cancer. RECQL test covers a different gene with moderate risk. | Analyzes multiple genes simultaneously, including RECQL, BRCA1/2, and others, providing a broader risk assessment. |
Frequently Asked Questions
What is the RECQL Gene Breast Cancer Susceptibility Test?
Who should consider this test?
How is the test performed?
What does a positive result mean?
What does a negative result mean?
Is genetic counseling required before testing?
How long does it take to get results?
Is home sample collection available?
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Are there any risks associated with the test?
Can this test diagnose breast cancer?
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