CALR Mutation Detection Test
Short Name: CALR Mutation Test
Also known as: Calreticulin Mutation Test, CALR Gene Test
CALR Mutation Detection Test test available at DNA Labs India for ₹6,000. Uses PCR, Sequencing on Whole blood samples. Results in Reports are available by Saturday for samples received by Monday 11 am.. 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 primary purpose of the CALR Mutation Detection Test is to diagnose myeloproliferative neoplasms by identifying mutations in the CALR gene. It helps in distinguishing CALR-mutated cases from other MPNs, guiding treatment decisions, and monitoring disease progression.
- Test Code
- 253
- Price
- ₹6,000
- Sample Type
- Whole blood
- Result Time
- Reports are available by Saturday for samples received by Monday 11 am.
- Fasting Required
- No
- Method
- PCR, Sequencing
Sample Collection
Ensure the patient has filled out the Genomics Clinical Information Requisition Form (Form 20). No fasting is required.
Method: Venipuncture
Laboratory Analysis
A blood sample of 3 ml will be drawn from a vein using standard venipuncture technique into an EDTA tube.
Report Delivery
Label the sample properly and store refrigerated. Do not freeze. Transport to the laboratory as per guidelines.
Timeline: Reports are available by Saturday for samples received by Monday 11 am.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the CALR Mutation Detection Test is to diagnose myeloproliferative neoplasms by identifying mutations in the CALR gene. It helps in distinguishing CALR-mutated cases from other MPNs, guiding treatment decisions, and monitoring disease progression.
How to Prepare
- Use a lavender top (EDTA) tube for blood collection.
- Collect 3 ml of whole blood, minimum 2 ml.
- Mix gently by inversion 8-10 times after collection.
- Do not freeze the sample.
- Store at refrigerated temperature (2-8°C) and transport within 72 hours.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The CALR mutation detection test is crucial for accurately diagnosing myeloproliferative neoplasms and guiding personalized treatment plans."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in wrong tube type
- Sample hemolyzed or clotted
- Insufficient sample volume
- Sample not stored or transported as instructed
- Missing or incomplete requisition form
Understanding Your Results
Negative
No CALR mutations detected. This may suggest other causes for symptoms, and further testing might be recommended.
Positive for Type 1 CALR mutation
Presence of type 1 CALR mutation, commonly associated with essential thrombocythemia and primary myelofibrosis. Treatment plans can be tailored accordingly.
Positive for Type 2 CALR mutation
Presence of type 2 CALR mutation, also linked to myeloproliferative neoplasms. Clinical correlation is advised.
Consult a hematologist or oncologist immediately after receiving positive results for further evaluation and treatment planning. For negative results with persistent symptoms, seek medical advice for alternative diagnoses.
Limitations
- ⚠This test only detects CALR mutations and may not identify other genetic abnormalities.
- ⚠False negatives can occur if mutation levels are below detection limit.
- ⚠Not a standalone diagnostic tool; should be used in conjunction with clinical findings and other tests.
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection or excessive bleeding
- ●No significant risks associated with the genetic test itself
Interfering Factors
- ●Contaminated blood sample
- ●Improper sample storage or transport
- ●Recent blood transfusions may affect DNA quality
- ●Certain medications that affect DNA integrity
Compare With Similar Tests
| Test | CALR Mutation Detection Test | JAK2 Mutation Detection Test | Complete Blood Count (CBC) |
|---|---|---|---|
| Comparison | CALR Mutation Detection Test | Both tests are used for diagnosing MPNs, but JAK2 tests for V617F mutation, while CALR tests for calreticulin mutations. They are often complementary. | CBC provides initial screening by measuring blood cell counts, while CALR mutation test confirms genetic basis of abnormalities. |
Frequently Asked Questions
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