Test Code MISC2MAYOKITE KIT Mutation Exons 8-11 and 17, Hematologic Neoplasms, Sequencing, Varies
Useful For
Prognostic assessment of acute myeloid leukemias with core-binding factor translocations (inv16 or t[16;16] CBFB-MYH11 or t[8;21] RUNX1-RUNX1T1)
Aids in establishing the diagnosis in some cases of mastocytosis
Special Instructions
Method Name
Mutation Detection in DNA Using Sanger Sequencing
Reporting Name
KIT Mutation, Hematologic NeoplasmSpecimen Type
VariesAdvisory Information
This test is intended for detection of KIT mutations in "core-binding factor" (CBF) acute myeloid leukemias (AML). For systemic mastocytosis see:
-KITB / KIT Asp816Val Mutation Analysis, Blood
-KITBM / KIT Asp816Val Mutation Analysis, Qualitative PCR, Bone Marrow
-KITAS / KIT Asp816Val Mutation Analysis, Qualitative PCR)
Shipping Instructions
Specimen must arrive within 7 days (168 hours) of collection.
Necessary Information
The following information is required:
1. Pertinent clinical history
2. Clinical or morphologic suspicion
3. Date and time of collection
4. Specimen source
Specimen Required
Submit only 1 of the following specimens:
Specimen Type: Blood
Container/Tube: EDTA (lavender top) or ACD (yellow top)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
3. Label specimen as blood.
Specimen Stability Information: Ambient (preferred)/Refrigerate
Specimen Type: Bone marrow
Container/Tube: EDTA (lavender top) or ACD (yellow top)
Specimen Volume: 2 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Send specimen in original tube.
3. Label specimen as bone marrow.
Specimen Stability Information: Ambient (preferred)/Refrigerate
Specimen Type: Extracted DNA from blood or bone marrow
Container/Tube: 1.5- to 2-mL tube
Specimen Volume: Entire specimen
Collection Instructions: Label specimen as extracted DNA from blood or bone marrow with an indication of volume and concentration of the DNA.
Specimen Stability Information: Frozen (preferred)/Refrigerate/Ambient
Specimen Type: Paraffin-embedded tissue
Container/Tube: Paraffin block
Specimen Volume: Entire block
Additional Information: Tissue must demonstrate involvement by a hematologic neoplasm (eg, AML), not solid tumors.
Specimen Stability Information: Ambient
Specimen Type: Paraffin-embedded bone marrow aspirate clot
Container/Tube: Paraffin block
Specimen Volume: Entire block
Specimen Stability Information: Ambient
Specimen Type: Tissue
Slides: Unstained slides
Specimen Volume: 10 Slides
Additional Information: Tissue must demonstrate involvement by a hematologic neoplasm (eg, AML), not solid tumors.
Specimen Stability Information: Ambient
Specimen Minimum Volume
Blood, bone marrow: 1 mL
Extracted DNA from blood or bone marrow:
50 microliters (mcL) at 20 ng/mcL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies | 7 days |
Reject Due To
Gross hemolysis | Reject |
Bone marrow core biopsies Paraffin shavings Frozen tissues Moderately to severely clotted | Reject |
Reference Values
An interpretive report will be provided
Day(s) and Time(s) Performed
Monday through Friday
Performing Laboratory

Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
81272-KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (eg, gastrointestinal stromal tumor [GIST], acute myeloid leukemia, melanoma), gene analysis, targeted sequence analysis (eg, exons 8, 11, 13, 17, 18)
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
KITE | KIT Mutation, Hematologic Neoplasm | 55201-8 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
39426 | KIT Sequencing Result | No LOINC Needed |
MP027 | Specimen Type | 31208-2 |
37921 | Final Diagnosis | 50398-7 |
Forms
1. Hematopathology Patient Information (T676) in Special Instructions
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
Testing Algorithm
See Acute Myeloid Leukemia: Testing Algorithm in Special Instructions