cKIT Mutation Screening (Exons 9, 11, 13, 17) AML Test: Booking, Price, and Results
About cKIT Mutation Screening (Exons 9, 11, 13, 17) AML Test
| Field | Value |
|---|---|
| Also Known As | c-KIT Mutation Analysis, KIT Gene Mutation Test, CD117 Mutation Screening, KIT Exon Mutation Panel |
| Sample Type | Peripheral blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 15 days |
| Recommended For | Adults and children diagnosed with or suspected of having core binding factor acute myeloid leukaemia (CBF-AML) |
| Price | Starting at ₹14,400 |
What Is a cKIT Mutation Screening (Exons 9, 11, 13, 17) AML Test?
The cKIT Mutation Screening AML test examines specific regions of the KIT gene to detect mutations linked to acute myeloid leukaemia (AML). The KIT gene carries instructions for a protein that controls how blood-forming cells grow, divide, and survive. When this gene mutates, it can drive the development of leukaemia.
Also known as the c-KIT Mutation Analysis or KIT Gene Mutation Test, this is a specialised molecular test ordered by oncologists and haematologists. A peripheral blood sample collected in an EDTA tube is used for analysis.
What Does a cKIT Mutation Screening (Exons 9, 11, 13, 17) AML Test Measure?
The test analyses four specific segments (exons) of the KIT gene. Each exon corresponds to a different functional part of the KIT protein. The table below explains what each exon covers:
| Exon | Region of KIT Protein | Clinical Relevance |
|---|---|---|
| Exon 9 | Extracellular domain (amino acids 497 to 513) | Mutations here affect the outer portion of the receptor |
| Exon 11 | Juxtamembrane region (amino acids 550 to 591) | The most common site of KIT mutations (70 to 90% of cases) |
| Exon 13 | Kinase domain (amino acids 628 to 661) | Mutations affect the enzyme activity of the receptor |
| Exon 17 | Kinase domain (amino acids 799 to 823) | Includes the D816V hotspot, linked to higher relapse rates |
Together, these four exons cover the key mutation sites relevant to diagnosis, prognosis, and treatment planning in AML.
Why Is a cKIT Mutation Screening (Exons 9, 11, 13, 17) AML Test Done?
This test is part of the diagnostic and monitoring workup for patients with suspected or confirmed core binding factor AML. It provides information about prognosis and guides treatment decisions.
Common Symptoms That May Require This Test
A doctor may request this test when a patient presents with symptoms suggestive of AML. These symptoms include:
- Unusual or easy bruising, frequent nosebleeds, or bleeding gums
- Persistent fatigue that does not improve with rest
- Recurrent fever or frequent infections
- Night sweats
- Shortness of breath with minimal exertion
- Unexplained weight loss
- Pallor (pale skin) indicating low red blood cell counts
Conditions This Test Can Help Detect
This test helps identify mutations associated with several conditions. It is most commonly ordered for:
- Core binding factor acute myeloid leukaemia (CBF-AML), where KIT mutations are found in 20 to 40% of cases
- Assessment of relapse risk and overall prognosis in AML patients
- Gastrointestinal stromal tumours (GIST), mast cell disease, and germ cell tumours linked to KIT gene changes
- Eligibility evaluation for targeted therapy with tyrosine kinase inhibitors (TKIs), medicines that block specific proteins driving cancer growth
cKIT Mutation Screening (Exons 9, 11, 13, 17) AML Test for Chronic Disease Monitoring
This test is recommended as part of the initial diagnostic workup and disease stratification for CBF-AML. Oncologists may repeat the test to track how well treatment is working, check for minimal residual disease (traces of leukaemia remaining after treatment), or evaluate a patient at the time of suspected relapse.
How to Prepare and What to Expect
No special preparation is required for this test. The steps below explain what to expect from start to finish.
Do You Need to Fast?
No, fasting is not required. You may eat and drink normally before your blood draw. There are no restrictions on water intake.
Practical Tips Before Your Test
A few steps before your appointment will help ensure the sample is suitable for analysis:
- Bring a detailed clinical history, including your symptoms, previous test results, and any relevant medical records, as this is required for the test.
- Inform your doctor about any recent blood transfusions, as these can affect results.
- Disclose all current medications, particularly ongoing chemotherapy, to your healthcare provider.
- Carry your doctor's prescription or test requisition form to your appointment.
Step-by-Step Procedure
The cKIT Mutation Screening AML test uses a peripheral blood sample collected through a standard blood draw. Here is what to expect:
- A trained phlebotomist or nurse will clean the inside of your elbow with an antiseptic swab.
- A small needle is inserted into a vein, and approximately 2 mL of blood is collected into a lavender-topped EDTA tube.
- The needle is removed, and gentle pressure is applied to the puncture site. The process takes just a few minutes.
- The sample is labelled and stored at refrigerated temperature (2 to 8 degrees Celsius) to preserve its integrity during transport.
- At the laboratory, genomic DNA is extracted from the blood sample.
- Regions covering KIT exons 9, 11, 13, and 17 are amplified and analysed using Sanger sequencing to identify any mutations.
Factors That Can Affect Accuracy
Certain factors can influence the reliability of results. These include:
- Recent blood transfusions, which can dilute or alter the patient's genetic material in the sample
- Ongoing chemotherapy, which may reduce tumour cell content in the sample
- Low proportion of abnormal (neoplastic) cells in the sample — ideally above 40% for reliable detection
- Mutations in KIT exons not included in this panel (such as exon 8) will not be detected
- Sample handling conditions, including temperature during transport
Understanding Your cKIT Mutation Screening (Exons 9, 11, 13, 17) AML Test Results
Results of the cKIT Mutation Screening AML test are reported as either mutation detected or no mutation detected. A qualified haematologist or oncologist will interpret these findings alongside other clinical and genetic data.
| Result | Interpretation |
|---|---|
| Wild-type (no mutation detected) | No KIT mutation found in the tested exon regions; generally associated with a more favourable prognosis in CBF-AML |
| Mutation detected (positive) | A KIT mutation is present; associated with increased risk of relapse and reduced overall survival in AML patients |
A negative result does not completely rule out the possibility of a KIT mutation. Rare mutations outside the tested regions, or mutations present at very low levels (below the test's detection threshold of approximately 10 to 20% mutant allele), may not be identified.
Disclaimer: 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
- Recent blood transfusions may reduce the detectable proportion of mutant cells, potentially leading to a false-negative result.
- Patients receiving active chemotherapy may have lower tumour cell content in their sample, which can affect detection sensitivity.
- Mutations in KIT exons outside this panel will not be identified and may require additional testing if clinically suspected.
How to Maintain Healthy Levels
While this test screens for a genetic mutation rather than a modifiable health parameter, the following practices support overall wellbeing during monitoring:
- Follow your oncologist's recommended treatment and follow-up schedule consistently.
- Attend all scheduled appointments so that disease status can be tracked over time.
- Keep your healthcare team informed about any new or changing symptoms between appointments.
Lupin Diagnostics cKIT Mutation Screening (Exons 9, 11, 13, 17) AML Test Price and Home Collection
The cKIT Mutation Screening AML test is priced starting at ₹14,400 at Lupin Diagnostics, and home collection is available for peripheral blood samples across select cities.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 14400 |
| CHENNAI | 14400 |
| HYDERABAD | 14400 |
| KOLKATA | 14400 |
| NAVI MUMBAI | 14400 |
| PUNE | 14400 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Home collection is available for peripheral blood samples across cities where Lupin Diagnostics operates. All samples are processed in NABL-accredited laboratories by experienced molecular pathologists. Digital reports are shared via email or WhatsApp once results are ready.
Frequently Asked Questions
This test detects mutations in the KIT gene that are linked to acute myeloid leukaemia, particularly the core binding factor subtype. It helps oncologists assess a patient's prognosis, estimate relapse risk, and plan treatment. The KIT gene is a proto-oncogene, meaning mutations in it can drive the development of leukaemia.
These four exons cover the main mutation hotspots in the KIT gene. Exon 11 is the most commonly mutated region, accounting for the majority of cases, while exons 9, 13, and 17 cover other clinically significant sites. Together, they provide the information needed for diagnosis, risk stratification, and treatment decisions.
No, fasting is not required. You can eat and drink normally before your appointment.
A positive result means a mutation has been identified in one or more of the tested KIT exons. In AML patients, this is generally associated with a higher risk of relapse and a less favourable outlook. Your oncologist will consider this finding alongside other test results, including cytogenetics, to form a complete picture of your condition.
Home collection is available for the peripheral blood sample required for this test. A certified phlebotomist will visit your home to collect the sample. All samples are transported under refrigerated conditions and processed in accredited laboratories.
Not necessarily. A negative result means no mutation was found in the four exons tested. However, mutations in other KIT exons not covered by this panel; mutations present at very low levels would not be detected either. Your doctor will advise whether additional testing is needed based on your clinical situation.
cKIT Mutation Screening (Exons 9, 11, 13, 17) AML Test: Booking, Price, and Results
