Genome Signature Panel (HRD/GIS SCAR): Booking, Price, and Results
About Genome Signature Panel (HRD/GIS SCAR): Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | HRD Test, HRD Assay, Homologous Recombination Deficiency Test, Genomic Instability Score (GIS) Test, Genomic Scar Assay |
| Sample Type | FFPE tumour tissue block and peripheral blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 30 days |
| Recommended For | Adult males and females diagnosed with ovarian, breast, prostate, or pancreatic cancer |
| Price | Starting at ₹1,20,000 |
What Is a Genome Signature Panel (HRD/GIS SCAR)?
The Genome Signature Panel (HRD/GIS SCAR) is an advanced molecular test that analyses a tumour's DNA to detect homologous recombination deficiency (HRD), a specific type of DNA repair failure. It is prescribed by oncologists to guide treatment decisions, particularly around the use of targeted therapies. The test uses a tumour tissue sample along with a blood sample and is performed using next-generation sequencing (NGS). It is also known as the HRD Assay, the HRD test, or the Genomic Scar Assay.
What Does a Genome Signature Panel (HRD/GIS SCAR) Measure?
The test calculates a Genomic Instability Score (GIS) by evaluating three genomic markers, along with mutations in key DNA repair genes. Together, these measurements reveal whether a tumour has a defective DNA repair pathway.
The following parameters are assessed:
| Parameter | What It Measures |
|---|---|
| Loss of Heterozygosity (LOH) | Counts chromosomal regions longer than 15 Mb where one copy of a gene has been permanently lost |
| Telomeric Allelic Imbalance (TAI) | Detects imbalances at chromosome ends extending more than 11 Mb |
| Large-Scale State Transitions (LST) | Counts chromosomal breaks between adjacent regions longer than 10 Mb |
| Genomic Instability Score (GIS) | The total of LOH, TAI, and LST scores, used to determine HRD status |
| BRCA1 and BRCA2 gene variants | Identifies pathogenic mutations in key DNA repair genes including BRCA1, BRCA2, ATM, PALB2, and others |
Why Is a Genome Signature Panel (HRD/GIS SCAR) Done?
This test is ordered when an oncologist needs to understand the underlying DNA repair capacity of a tumour. This information directly influences which treatments are likely to be most effective.
Common Symptoms That May Require This Test
This test is not ordered based on symptoms alone. It is typically recommended in the following clinical situations:
- A confirmed diagnosis of high-grade serous ovarian cancer
- Newly diagnosed breast cancer with suspected hereditary risk
- Advanced prostate cancer being evaluated for targeted therapy
- Pancreatic cancer with a family history of BRCA-related cancers
- Cancer recurrence where alternative treatment options are being considered
- A known BRCA mutation identified through earlier genetic testing
Conditions This Test Can Help Detect
An oncologist may request this test to assess or confirm the following:
- Homologous recombination deficiency (HRD) in tumour cells
- BRCA1 or BRCA2 pathogenic mutations within the tumour
- Eligibility for PARP inhibitor therapy in ovarian, breast, prostate, and pancreatic cancers
- Likelihood of response to platinum-based chemotherapy
- Genomic instability patterns that influence overall cancer prognosis
How to Prepare and What to Expect
This test involves two sample types: a tumour tissue block and a blood sample. Understanding what is needed in advance can help avoid delays.
Do You Need to Fast?
No fasting is required before providing either sample for this test.
Practical Tips Before Your Test
The following steps will help ensure the samples are suitable for testing:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Bring any available histopathology (HPE) and immunohistochemistry (IHC) reports related to the tumour sample
- Inform your oncologist if you have received neoadjuvant chemotherapy, as prior treatment may affect tissue quality
- The FFPE tumour tissue block should contain at least 20 to 30% tumour cells for a valid result
- Do not stop any current medications before sample collection unless specifically instructed by your doctor
Step-by-Step Procedure
Tumour Tissue (FFPE Block):
- Tumour tissue is obtained during a biopsy or surgical procedure performed by your treating doctor or surgeon.
- The tissue is preserved using a standard method called formalin fixation and paraffin embedding, producing an FFPE tissue block.
- This block is packaged and sent to the Lupin Diagnostics laboratory under refrigerated conditions (2 to 8 degrees Celsius).
Peripheral Blood Sample:
- A trained phlebotomist collects 3 ml of blood from a vein in your arm into a lavender-top EDTA tube. This is a routine blood draw and takes under two minutes.
- The blood sample is used for germline comparison, helping distinguish inherited mutations from tumour-specific changes.
- Both samples are dispatched together to the laboratory, where DNA is extracted and analysed using next-generation sequencing (NGS).
Factors That Can Affect Accuracy
Several factors may influence the reliability of this test:
- Low tumour cell content in the FFPE block (below 20 to 30%)
- Poor preservation of the tissue sample or prolonged time between collection and fixation
- Degraded DNA quality due to improper storage or handling
- Prior chemotherapy, which may alter the tumour's genomic characteristics
- Intratumour variation, where different parts of the same tumour may show different HRD status depending on the biopsy site
Understanding Your Genome Signature Panel (HRD/GIS SCAR) Results
Results from the Genomic Instability Score (GIS) test are reviewed by an oncologist alongside your clinical history, cancer type, and stage. The table below outlines general interpretation thresholds.
| Parameter | Threshold | Interpretation |
|---|---|---|
| Genomic Instability Score (GIS) | 42 or above | HRD-positive: defective DNA repair likely |
| Genomic Instability Score (GIS) | Below 42 | HRD-negative: DNA repair pathway appears intact |
| Alternative threshold (select settings) | 33 or above | Used in some studies to identify additional potential responders |
| BRCA1 or BRCA2 pathogenic variant | Present | HRD-positive regardless of GIS score |
These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Prior chemotherapy may alter tumour characteristics and affect the GIS score, which your oncologist will factor into their interpretation.
Genomic scars detected by this test are permanent changes to the tumour's DNA. A tumour may show these scars even if it has since partially restored its DNA repair function. This means results reflect historical DNA damage as well as current HRD status.
How to Maintain Healthy Levels
Because this is a cancer diagnostic test, HRD status cannot be changed through lifestyle choices. The following steps are recommended after receiving results:
- Discuss your results thoroughly with your oncologist before any treatment decisions are made
- If a BRCA1 or BRCA2 mutation is identified, consider genetic counselling, as these mutations may be relevant for blood relatives
- Follow your oncologist's treatment plan, which may include PARP inhibitor therapy, platinum-based chemotherapy, or other options based on your results
Lupin Diagnostics Genome Signature Panel (HRD/GIS SCAR) Price
The Genome Signature Panel (HRD/GIS SCAR) is priced starting at ₹1,20,000 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre or the submission of pre-collected samples through your treating hospital. Home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| Mumbai | 120000 |
| Pune | 120000 |
| Bangalore | 120000 |
| Chennai | 120000 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to book the HRD Assay at Lupin Diagnostics:
- Select the Genome Signature Panel on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time to collect your blood sample and submit your FFPE tissue block.
- Receive your report via email or WhatsApp within 30 days of sample submission.
Frequently Asked Questions
This test identifies whether a tumour has a homologous recombination deficiency, a DNA repair failure. Oncologists use this information to determine if a patient is likely to benefit from PARP inhibitor therapy or platinum-based chemotherapy, particularly in ovarian, breast, prostate, and pancreatic cancers.
Two samples are required: an FFPE tumour tissue block, usually obtained during a previous biopsy or surgery, and a 3 ml blood sample collected from a vein. The blood sample is used for germline comparison and is collected at the diagnostic centre.
An HRD-positive result means the tumour has defects in its DNA repair pathway. This makes the cancer potentially more responsive to certain targeted therapies, including PARP inhibitors. Your oncologist will explain the treatment implications specific to your case.
The report is delivered within 30 days of sample receipt at the laboratory. This timeframe accounts for the complexity of next-generation sequencing analysis and quality review.
In most cases, this test is performed once, at the time of diagnosis or before starting treatment. If cancer recurs or progresses, your oncologist may recommend retesting to check for changes in HRD status or new mutations.
Inconclusive results most often occur when the tumour cell content in the FFPE block is below the required threshold, when DNA quality is poor due to improper tissue preservation, or when insufficient tumour material was collected during biopsy. Your oncologist or the lab team will advise on next steps if this occurs.
Yes. A detailed clinical history is required for this test. You should also bring any available histopathology (HPE) and immunohistochemistry (IHC) reports related to the tumour. These documents help the laboratory and interpreting pathologist contextualise the results accurately.
Genome Signature Panel (HRD/GIS SCAR): Booking, Price, and Results
