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Test ID KITE 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

Genetics Test Information

This test is intended to detect KIT gene mutations in exons 8 through 11 and 17 that occur in hematologic malignant neoplasms, including specifically acute myeloid leukemia (AML) and mastocytosis. This test identifies somatic (acquired) mutations in these tumors.

Highlights

KIT mutations have been associated with adverse prognosis in "core-binding factor" (CBF) acute myeloid leukemias (AML) characterized by inv16 or t(16;16) CBFB-MYH11 or t(8;21) RUNX1-RUNX1T1 genetic abnormalities.

 

KIT mutations are involved in the pathogenesis of mastocytosis and detection of the common KIT mutation p.Asp816Val (D816V) is an important minor diagnostic criterion for systemic mastocytosis; however, other KIT mutations can be seen in a small number of cases negative for the D816V.

 

This test is intended primarily for detection of KIT mutations in CBF AML and may be useful in some cases of mastocytosis. However, if systemic mastocytosis is suspected, the more sensitive allele-specific PCR method to specifically identify the KIT D816V abnormality is strongly recommended prior to KIT sequencing (available as KITB / KIT Asp816Val Mutation Analysis, Blood; KITBM / KIT Asp816Val Mutation Analysis, Qualitative PCR, Bone Marrow; or KITAS / KIT Asp816Val Mutation Analysis, Qualitative PCR), given that mast cell abundance in bone marrow samples is often very limited (see Cautions).

Method Name

Mutation Detection in DNA Using Sanger Sequencing

Reporting Name

KIT Mutation, Hematologic Neoplasm

Specimen Type

Varies


Advisory 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
Varies Varies 7 days

Reference Values

An interpretive report will be provided

Day(s) and Time(s) Performed

Monday through Friday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

NY State Approved

Yes

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.