IDH1 & IDH2 Mutation Analysis Test
About IDH1 & IDH2 Mutation Analysis Test
| Field | Value |
|---|---|
| Also Known As | IDH1/IDH2 Mutation Detection, Isocitrate Dehydrogenase Mutation Analysis, IDH Gene Mutation Test |
| Sample Type | FFPE (formalin-fixed paraffin-embedded) tissue block |
| Fasting Required | No |
| Report Time | 12 days |
| Recommended For | Adults with suspected or confirmed glioma, acute myeloid leukaemia, or intrahepatic cholangiocarcinoma |
| Price | Starting at ₹10,200 |
What is an IDH1 & IDH2 Mutation Analysis Test?
The IDH1 & IDH2 Mutation Analysis Test examines tumour tissue for mutations in the IDH1 and IDH2 genes. These genes carry instructions for enzymes involved in normal cell energy processes. When mutated, they can drive tumour growth.
The test is also called the IDH Gene Mutation Test or Isocitrate Dehydrogenase Mutation Analysis. Oncologists commonly request it for patients diagnosed with or suspected of having glioma, acute myeloid leukaemia (AML), or intrahepatic cholangiocarcinoma (bile duct cancer). A tumour tissue sample, preserved as an FFPE block, is used for analysis.
What Does an IDH1 & IDH2 Mutation Analysis Test Measure?
The test detects specific mutations at defined points in the IDH1 and IDH2 genes. These mutations cause the affected enzymes to produce a cancer-promoting substance called R(-)-2-hydroxyglutarate, which contributes to tumour development.
Why is an IDH1 & IDH2 Mutation Analysis Test Done?
This test is ordered to support diagnosis, tumour classification, and treatment planning in certain cancers. A doctor may request it based on symptoms, imaging findings, or biopsy results.
Common Symptoms That May Require This Test
- Persistent or worsening headaches
- New-onset or recurring seizures
- Memory problems or cognitive changes
- Vision disturbances
- Unexplained and prolonged fatigue
- Frequent infections
- Easy bruising or unusual bleeding
Conditions This Test Can Help Detect
- Diffuse gliomas (brain tumours), including WHO grade II to III astrocytomas and oligodendrogliomas
- Secondary glioblastoma (grade IV brain tumour)
- Acute myeloid leukaemia (AML) with IDH mutations
- Intrahepatic cholangiocarcinoma (bile duct cancer arising within the liver)
- Cartilaginous tumours with IDH involvement
How to Prepare and What to Expect
No special preparation is needed for this test. The sample used is tumour tissue collected during a biopsy or surgery, not a routine blood draw.
Do You Need to Fast?
No fasting is required. You may eat, drink, and take your regular medications as usual before the test.
Practical Tips Before Your Test
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Provide a copy of your pathology report to the laboratory, as processing may be delayed without it
- Inform your doctor about all medications and supplements you are currently taking
- Ensure the FFPE tissue block is properly labelled and accompanied by relevant clinical details
- Ask your surgeon or pathologist whether the tumour content in the block is sufficient (typically, at least 20% tumour cells are needed)
Step-by-Step Procedure
The sample for this test is a preserved tumour tissue block. Here is how the process typically works:
- Tumour tissue is collected during a surgical procedure or biopsy performed at a hospital or diagnostic centre.
- The tissue is fixed in formalin and embedded in paraffin wax to create the FFPE block, which preserves the DNA for later analysis.
- The FFPE block is transported to the laboratory at ambient temperature (18 to 28 degrees Celsius).
- In the laboratory, DNA is extracted from the tumour tissue.
- The extracted DNA is analysed using Sanger sequencing to detect mutations in the IDH1 and IDH2 genes.
- Results are prepared with a written interpretation of the mutation status and dispatched within 12 days.
Factors That Can Affect Accuracy
Several factors may influence the reliability of the test result:
- Tumour cell content in the tissue sample (low tumour content can affect detection)
- Quality of tissue fixation and processing
- Integrity of the DNA in the sample
- Adequacy of clinical information provided with the sample
Understanding Your IDH1 & IDH2 Mutation Analysis Test Results
Results are reported as either "mutation detected" or "no mutation detected." A qualified doctor must always interpret the result in the context of the patient's full clinical picture.
| Parameter | Normal Result | What a Mutation May Indicate |
|---|---|---|
| IDH1 mutation status | No mutation detected (wild-type) | A positive result may indicate IDH1-mutant glioma or AML; may suggest eligibility for IDH1-targeted therapy |
| IDH2 mutation status | No mutation detected (wild-type) | A positive result may indicate IDH2-mutant glioma or AML; may suggest eligibility for IDH2-targeted therapy |
In gliomas, an IDH mutation (positive result) is generally associated with a more favourable prognosis compared to IDH wild-type tumours. In AML, the prognostic significance depends on the specific mutation type. A wild-type (negative) result in glioma is associated with a less favourable outlook. In either case, your oncologist will explain what the result means for your specific situation.
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.
How to Maintain Healthy Levels
While mutation status cannot be changed, the following general steps support overall well-being during cancer care:
- Follow up regularly with your oncologist so that monitoring and any necessary treatment adjustments are made promptly
- Maintain a balanced diet and stay physically active to the extent your doctor advises
- Report any new or worsening symptoms to your healthcare team without delay
Lupin Diagnostics IDH1 & IDH2 Mutation Analysis Test Price
The IDH1 & IDH2 Mutation Analysis Test cost at Lupin Diagnostics starts at ₹10,200. This test requires a visit to a Lupin Diagnostics centre or a hospital where tumour tissue can be collected. Home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 10200 |
| CHENNAI | 10200 |
| HYDERABAD | 10200 |
| KOLKATA | 10200 |
| NAVI MUMBAI | 10200 |
| PUNE | 10200 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps for IDH1 & IDH2 Mutation Analysis Test online booking:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time for sample submission.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
This test identifies specific mutations in the IDH1 and IDH2 genes within tumour tissue. The results help doctors classify tumours accurately, estimate prognosis, and decide whether a patient may benefit from targeted therapies.
Patients with a confirmed or suspected diagnosis of glioma, acute myeloid leukaemia, or intrahepatic cholangiocarcinoma are the primary candidates. Your oncologist will advise whether this test is appropriate for your case.
At Lupin Diagnostics, this test uses an FFPE (formalin-fixed paraffin-embedded) tissue block obtained during a biopsy or surgical procedure. The block must be properly labelled and accompanied by a clinical history.
Results are available within 12 days at Lupin Diagnostics. The time may vary slightly depending on sample quality and completeness of clinical information provided.
In gliomas, an IDH mutation is generally linked to a more favourable prognosis compared to IDH wild-type tumours. In acute myeloid leukaemia, the significance varies. Your oncologist will explain what your specific result means within the full clinical context of your diagnosis.
Yes, approved targeted therapies exist for certain IDH-mutant cancers, including acute myeloid leukaemia and intrahepatic cholangiocarcinoma. Your doctor will guide you on the most appropriate treatment options based on your case.
The test itself is performed on tissue already collected during a biopsy or surgery. No additional procedure is required if the FFPE block is already available. Any discomfort is related to the original biopsy, not this test.
IDH1 & IDH2 Mutation Analysis Test
