IDH 1 & IDH 2 Gene Mutation Test
About IDH 1 & IDH 2 Gene Mutation Test
| Field | Value |
|---|---|
| Also Known As | IDH1/IDH2 Mutation Analysis, Isocitrate Dehydrogenase 1 and 2 Mutation Test, IDH Mutation Test |
| Sample Type | FFPE tissue block (formalin-fixed paraffin-embedded tumour tissue) |
| Fasting Required | No fasting required |
| Report Time | 8 days |
| Recommended For | Adults with suspected or confirmed glioma, acute myeloid leukaemia, cholangiocarcinoma, or chondrosarcoma |
| Price | Starting at ₹12,000 |
What is an IDH 1 & IDH 2 Gene Mutation Test?
The IDH 1 & IDH 2 Gene Mutation Test analyses tumour tissue for changes in the IDH1 and IDH2 genes, which play a role in how cells process energy. When these genes carry mutations, they can produce a substance that promotes tumour growth.
Doctors use this test to classify certain cancers, estimate prognosis, and identify whether a patient is eligible for targeted therapy. It is also known as IDH1/IDH2 Mutation Analysis or the IDH Mutation Test.
What Does an IDH 1 & IDH 2 Gene Mutation Test Measure?
This test looks for specific genetic changes in two genes. The table below explains what each component covers.
| Component | What it Identifies |
|---|---|
| IDH1 gene (codon R132) | Mutations that cause abnormal enzyme activity and cancer-promoting substance production |
| IDH2 gene (codons R140 and R172) | Mutations at key positions associated with blood and solid tumour cancers |
| Mutation status (overall) | Whether the result is wild-type (no mutation) or mutant (mutation present), with the specific variant reported |
The normal function of IDH1 and IDH2 is to help convert a molecule called isocitrate into another called alpha-ketoglutarate, which is part of normal cell energy metabolism. Mutations disrupt this process and instead produce a substance called 2-hydroxyglutarate, which can drive tumour development.
Why is an IDH 1 & IDH 2 Gene Mutation Test Done?
This test is ordered when a doctor needs to confirm a cancer diagnosis, understand its behaviour, or plan treatment. Below are the main reasons it may be requested.
Common Symptoms That May Require This Test
The following symptoms, particularly in the context of a suspected brain tumour or blood cancer, may prompt a doctor to order this test.
- Persistent or worsening headaches
- Seizures with no prior history
- Changes in vision or speech
- Memory problems or cognitive changes
- Unexplained fatigue
- Easy bruising or bleeding
- Unexplained weight loss
Conditions This Test Can Help Detect
This test is used in the diagnosis and classification of several cancers. The following conditions are commonly associated with IDH gene mutations.
- Gliomas, including oligodendrogliomas and astrocytomas (brain and spinal cord tumours)
- Acute myeloid leukaemia (AML), a type of blood cancer
- Myelodysplastic syndromes and myeloproliferative neoplasms
- Cholangiocarcinoma (bile duct cancer)
- Chondrosarcoma (cartilage tumour)
IDH1 mutations occur in 70 to 80% of WHO grade II and III astrocytomas and oligodendrogliomas. IDH1 and IDH2 mutations together are found in approximately 16 to 17% of AML patients.
How to Prepare and What to Expect
The sample for this test is usually tissue already collected during a biopsy or surgery. Here is what you need to know before the test is processed.
Do You Need to Fast?
No fasting is required. You can eat and drink as normal before any associated procedure.
Practical Tips Before Your Test
The following steps will help ensure the test proceeds smoothly.
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Carry all previous pathology reports, imaging scans, and surgical summaries when visiting the centre
- Inform your doctor about all medications and supplements you are currently taking
- For tissue-based testing, the sample is typically obtained during surgery or a biopsy; no separate sample collection is required from the patient
- If your doctor has ordered blood or bone marrow collection (for AML), follow any specific instructions provided
Step-by-Step Procedure
- A tissue sample is obtained during a surgical procedure or needle biopsy. If a tumour has already been surgically removed, part of the resected tissue is set aside for testing.
- The tissue is preserved using a standard fixative solution (formalin) and embedded in paraffin wax to form an FFPE block, which is stored at ambient temperature (18 to 28 degrees Celsius).
- The FFPE block is transported to the Lupin Diagnostics laboratory, where trained pathologists assess the tumour content of the sample.
- DNA is extracted from the tumour tissue and analysed using Sanger Sequencing, a method that reads the genetic code to identify specific mutations in the IDH1 and IDH2 genes.
- Results are compiled, noting whether a mutation was detected and, if so, the specific variant identified.
- A report is generated and delivered to the referring doctor, typically within 8 days.
Factors That Can Affect Accuracy
Certain sample characteristics can influence the reliability of results. The following factors are worth noting.
- Low tumour cellularity (fewer than 20% cancer cells in the tissue) may lead to inconclusive or false-negative results
- Tissue treated with acid to remove calcium (decalcified tissue) or preserved using alternative fixatives may have degraded DNA, causing the test to fail
- Blood or bone marrow samples for AML testing require at least 30% cancer cells for reliable mutation detection
- Preferred tissue samples have a surface area of at least 4 mm² and tumour content of 50% or more
Understanding Your IDH 1 & IDH 2 Gene Mutation Test Results
Results are reported qualitatively, meaning the test indicates either that a mutation was detected or that no mutation was found. Your doctor will interpret the result in the context of your diagnosis, imaging, and medical history.
| Result | Interpretation |
|---|---|
| Not Detected (Wild-type) | No IDH1 or IDH2 mutation identified in the sample |
| Detected (Mutant) | A mutation is present; the specific variant is reported |
"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
Certain circumstances can affect how results are interpreted or whether the test can be completed.
- Low tumour cellularity may produce a false-negative result, meaning a mutation could exist but goes undetected due to insufficient cancer cells in the sample.
- Decalcified tissue or samples fixed using non-standard methods may yield failed results because the DNA is too degraded for analysis.
- Additionally, this test evaluates variants only in tumour tissue and cannot distinguish between acquired and inherited mutations.
How to Maintain Healthy Levels
This test detects genetic mutations in tumour cells and is not influenced by lifestyle habits. The following general points apply.
- Follow all treatment and monitoring recommendations given by your oncologist after receiving results
- Attend all scheduled follow-up appointments to track your health progress
- Maintain a balanced diet, adequate rest, and open communication with your care team throughout treatment
Lupin Diagnostics IDH 1 & IDH 2 Gene Mutation Test Price
The IDH 1 & IDH 2 Gene Mutation Test cost at Lupin Diagnostics starts at ₹12,000. This test requires a visit to a Lupin Diagnostics centre or submission of a tissue block through your treating hospital; home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 12000 |
| CHENNAI | 12000 |
| HYDERABAD | 12000 |
| KOLKATA | 12000 |
| NAVI MUMBAI | 12000 |
| PUNE | 12000 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
The IDH 1 & IDH 2 Gene Mutation Test online booking is straightforward. Follow these steps to get started.
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time to submit the sample, or arrange for your treating hospital to send the FFPE tissue block directly.
- Receive your report via email or WhatsApp within 8 days of sample receipt.
Frequently Asked Questions
This test detects mutations in the IDH1 and IDH2 genes, which help classify certain cancers, estimate prognosis, and determine whether a patient is eligible for targeted therapy. It is commonly ordered for gliomas, acute myeloid leukaemia, and cholangiocarcinoma.
The primary sample is an FFPE tissue block, which is tumour tissue preserved in formalin and embedded in paraffin wax. This block is usually prepared from tissue collected during surgery or a biopsy. For blood cancers such as AML, a blood or bone marrow sample may be used instead.
No fasting is needed. You can eat and drink normally before the procedure. Any dietary restrictions would apply only to a related surgical or biopsy procedure, not to the genetic test itself.
In gliomas, an IDH mutation is generally associated with a more favourable prognosis and a better response to chemotherapy than in tumours without the mutation. In AML and cholangiocarcinoma, a detected mutation may indicate eligibility for specific targeted therapies. Your oncologist will explain what the finding means for your specific situation.
Results are typically available within 8 days at Lupin Diagnostics. Turnaround time may vary depending on sample quality and laboratory workload. Your doctor will notify you once the report is ready.
The genetic test itself involves no additional discomfort. The tissue sample is collected during a biopsy or surgery that your doctor has already planned. The laboratory analysis is performed on the preserved tissue block.
This test is primarily a one-time diagnostic tool used to classify a tumour at the time of diagnosis. In specific circumstances, your oncologist may request repeat testing, but it is not part of routine scheduled monitoring.
IDH 1 & IDH 2 Gene Mutation Test
