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DNA Labs India

Genome Signature (HRD) Test

DNA Labs India | ISO 9001:2015 Certified

Genome Signature (HRD) Test

Also known as: HRD Genomic Signature, Genomic Instability Score (GIS), HRD Score Test

Genome Signature (HRD) Test test available at DNA Labs India for ₹270,000. Uses Next-Generation Sequencing (NGS), Genomic Instability Score (GIS) analysis on Tumor tissue (paraffin-embedded block) + Peripheral Blood samples. Results in Reports are typically available within 3-4 weeks after the samples are received by the laboratory.. Free home collection in 300+ cities across India.

GeneticAdult🏠 Home Collection

🩺 Medically Reviewed By

Overview

The primary purpose of Genome Signature (HRD) testing is to detect homologous recombination deficiency in tumor cells. This information is crucial for oncologists to decide on the use of PARP inhibitors (e.g., olaparib, niraparib) and platinum-based chemotherapy, which are particularly effective in HRD-positive tumors. The test also aids in assessing prognosis and risk stratification for patients with breast, ovarian, and prostate cancers.

Test Code
6105
CPT Code
81479
ICD Code
Z12.9
Price
₹270,000
Sample Type
Tumor tissue (paraffin-embedded block) + Peripheral Blood
Result Time
Reports are typically available within 3-4 weeks after the samples are received by the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Genomic Instability Score (GIS) analysis
Step 1

Sample Collection

No special preparation is required. However, a doctor's prescription is mandatory. Inform your doctor about any medications you are taking, especially anticoagulants, as they may affect blood collection.

Method: Biopsy (tumor tissue) and venipuncture (blood)

Step 2

Laboratory Analysis

Tumor tissue sample is obtained via biopsy (surgical or core needle). Blood samples are drawn from a vein in the arm. The procedure is quick and minimally invasive.

Step 3

Report Delivery

You may resume normal activities immediately. There may be minor bruising at the blood draw site, which is normal. The tumor tissue sample will be sent to the laboratory for analysis.

Timeline: Reports are typically available within 3-4 weeks after the samples are received by the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. Ensure you have a doctor's prescription. Inform your doctor about any medications you are taking.
2
During the Test:The test involves a tumor biopsy (if not already performed) and a blood draw. The biopsy may be done under local anesthesia. Blood collection is a simple venipuncture.
3
After the Test:You can resume normal activities. There may be minor soreness at the biopsy site. The laboratory will process your samples and provide results in 3-4 weeks.

About This Test

Who Should Get This Test

The primary purpose of Genome Signature (HRD) testing is to detect homologous recombination deficiency in tumor cells. This information is crucial for oncologists to decide on the use of PARP inhibitors (e.g., olaparib, niraparib) and platinum-based chemotherapy, which are particularly effective in HRD-positive tumors. The test also aids in assessing prognosis and risk stratification for patients with breast, ovarian, and prostate cancers.

How to Prepare

  • Tumor tissue: Formalin-fixed paraffin-embedded (FFPE) block or unstained slides (minimum 5 slides) with ≥20% tumor cellularity
  • Blood: 2 mL in EDTA vacutainer for germline comparison
  • Blood: 2 mL in Streck tube for cell-free DNA analysis (if applicable)
  • Samples must be labeled with patient name, date of birth, and collection date
  • Samples should be transported at room temperature for FFPE blocks and at 2-8°C for blood tubes

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genome Signature (HRD) testing is a critical tool for identifying patients with homologous recombination deficiency, which can guide the use of PARP inhibitors and platinum-based therapies. This test provides actionable genomic information that can significantly impact treatment decisions in breast, ovarian, and prostate cancers."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeTumor tissue (paraffin-embedded block) + Peripheral Blood
Sample VolumeTumor block (FFPE) + 2 mL blood in EDTA + 2 mL blood in Streck tube
ContainerParaffin-embedded tissue block, EDTA Vacutainer, Streck tube
Collection MethodBiopsy (tumor tissue) and venipuncture (blood)

Sample Stability

Room temperature (15-25°C)
2-8°C
Room temperature (15-25°C)
Sample Rejection Criteria:
  • Inadequate tumor tissue (low cellularity)
  • Hemolyzed blood samples
  • Clotted blood samples
  • Improperly labeled samples
  • Samples received after prolonged transit time without proper storage

Understanding Your Results

The Genome Signature (HRD) test results are interpreted by a clinical geneticist and oncologist. A positive HRD score indicates the presence of homologous recombination deficiency, which may predict response to PARP inhibitors and platinum-based chemotherapy. The report includes the Genomic Instability Score (GIS), BRCA1/2 mutation status, and other HRR gene alterations.
📊

HRD-positive (GIS ≥42 or presence of pathogenic BRCA1/2 mutation)

Likely to benefit from PARP inhibitors (e.g., olaparib) and platinum-based chemotherapy. Consider targeted therapy options.

📊

HRD-negative (GIS <42 and no pathogenic HRR gene mutations)

Less likely to respond to PARP inhibitors; alternative treatment strategies may be considered.

📊

Variant of Uncertain Significance (VUS) in HRR genes

Clinical significance is unclear; further genetic counseling and testing may be recommended.

⚠️ When to Consult a Doctor:

Consult your oncologist if you have been diagnosed with breast, ovarian, or prostate cancer and are considering targeted therapy options. Also, consult if you have a family history of these cancers and wish to assess your genetic risk.

Limitations

  • Test may not detect all HRD-related genomic alterations
  • Results are dependent on tumor tissue quality and quantity
  • Not a substitute for germline BRCA testing; separate blood-based test may be needed
  • Interpretation requires expert molecular pathologist review
  • Clinical utility may vary based on cancer type and stage

Risks & Considerations

  • Minor bleeding or bruising at the blood draw site
  • Infection or bleeding at the biopsy site (rare)
  • Psychological distress from genetic results
  • Potential for incidental findings

Interfering Factors

  • Inadequate tumor tissue sample (low tumor cellularity)
  • DNA degradation due to improper tissue fixation or storage
  • Recent chemotherapy or radiation therapy may affect tumor DNA quality
  • Contamination of tumor sample with normal tissue
  • Presence of germline variants that may confound somatic analysis

Compare With Similar Tests

TestGenome Signature (HRD)BRCA1/2 Mutation AnalysisHomologous Recombination Repair (HRR) Gene PanelFoundationOne CDx
ComparisonGenome Signature (HRD)

Frequently Asked Questions

What is the cost of Genome Signature (HRD) testing in India?
The cost of Genome Signature (HRD) testing in India is Rs 270000. This includes home sample collection and comprehensive reporting.
What is the sample type required for the Genome Signature (HRD) test?
The test requires tumor tissue (paraffin-embedded block) and peripheral blood samples (EDTA and Streck tubes).
Is fasting required before the Genome Signature (HRD) test?
No, fasting is not required for this test.
How long does it take to get the results of the Genome Signature (HRD) test?
The turnaround time is typically 3-4 weeks from the time samples are received by the laboratory.
What is the purpose of the Genome Signature (HRD) test?
The test detects homologous recombination deficiency in tumor cells, which helps guide treatment decisions, particularly the use of PARP inhibitors and platinum-based chemotherapy.
Is a doctor's prescription required for the Genome Signature (HRD) test?
Yes, a doctor's prescription is mandatory for this test. However, it is not applicable for surgery and pregnancy cases or for people planning to travel abroad.
What is the Genomic Instability Score (GIS) in HRD testing?
The GIS is a numerical score that reflects the level of genomic instability in the tumor. A higher score indicates a greater likelihood of HRD.
Can the Genome Signature (HRD) test be done at home?
Yes, we offer free home sample collection for online bookings across India.
Which cancers are associated with HRD?
HRD is commonly associated with breast, ovarian, and prostate cancers, but it can also be seen in other tumor types.
What is the difference between HRD testing and BRCA testing?
BRCA testing specifically looks for mutations in BRCA1/2 genes, while HRD testing evaluates broader genomic instability and may include analysis of multiple HRR genes.
Are there any risks associated with the Genome Signature (HRD) test?
The test involves a tumor biopsy and blood draw, which carry minimal risks such as bleeding or infection. Genetic results may also cause psychological distress.
Is the Genome Signature (HRD) test covered by insurance?
Insurance coverage varies. It is recommended to check with your insurance provider. We also offer assistance with pre-authorization if needed.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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