Test Catalog

Test Id : KITE

Order This Test

KIT Mutation Exons 8-11 and 17, Hematologic Neoplasms, Sequencing, Varies

Download
Overview

Test Catalog

Useful For
Suggests clinical disorders or settings where the test may be helpful

Prognostic assessment of acute myeloid leukemias with core-binding factor translocations (inv16 or t[16;16] CBFB-MYH11 or t[8;21] RUNX1-RUNX1T1)

 

This test is not intended for KIT evaluation in solid tumors (eg, melanoma, gastrointestinal stromal tumor).

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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 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 polymerase chain reaction method to specifically identify the KIT D816V abnormality is strongly recommended prior to KIT sequencing given that mast cell abundance in bone marrow samples is often very limited (see Ordering Guidance and Cautions).

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Sanger Sequencing

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

KIT Mutation, Hematologic Neoplasm

Aliases
Lists additional common names for a test, as an aid in searching

KIT exons 8-11 and 17, mutation analysis

Acute myeloid leukemia (AML) with KIT mutation

AML with inv16 or t(8;21)

Mast cell disease

Mast cell neoplasm

Mastocytosis

Systemic mastocytosis

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

This test is intended for detection of KIT mutations in "core-binding factor" (CBF) acute myeloid leukemias (AML). For systemic mastocytosis, order KITVS / KIT Asp816Val Mutation Analysis, Varies.

 

This test is not intended for KIT evaluation in solid tumors (eg, melanoma, gastrointestinal stromal tumor); for these indications, refer to one of the following:

-Gastrointestinal Stromal Tumor (GIST) Targeted Gene Panel, Next-Generation Sequencing, Tumor

-Melanoma Targeted Gene Panel, Next-Generation Sequencing, Tumor

-Solid Tumor-Targeted Cancer Gene Panel, Next-Generation Sequencing, Varies

Shipping Instructions

Specimen must arrive within 7 days 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

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
MP027 Specimen Type

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Submit only 1 of the following specimens:

 

Specimen Type: Blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

3. Label specimen as blood.

Specimen Stability Information: Ambient (preferred)/Refrigerate

 

Specimen Type: Bone marrow

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send bone marrow specimen in original tube. Do not aliquot.

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, acute myeloid leukemia: 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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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.

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Blood, bone marrow: 1 mL

Extracted DNA from blood or bone marrow: 50 microliters (mcL) at 20 ng/mcL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis Reject
Bone marrow core biopsies
Paraffin shavings
Frozen tissues
Moderately to severely clotted 		Reject

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Varies Varies 7 days

Useful For
Suggests clinical disorders or settings where the test may be helpful

Prognostic assessment of acute myeloid leukemias with core-binding factor translocations (inv16 or t[16;16] CBFB-MYH11 or t[8;21] RUNX1-RUNX1T1)

 

This test is not intended for KIT evaluation in solid tumors (eg, melanoma, gastrointestinal stromal tumor).

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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 and mastocytosis. This test identifies somatic (acquired) mutations in these tumors.

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Acquired mutations in the KIT gene are identified in a subset of acute myeloid leukemias (AML) characterized by inv16 or t(16;16) CBFB-MYH11 or t(8;21) RUNX1-RUNX1T1 genetic abnormalities (approximately 10%-20% of cases) and in this setting, the additional presence of a KIT gene mutation has been described as an adverse prognostic factor in some studies. KIT mutations in AML tend to involve exons 8 through 11 and 17, although the p.Asp816Val (D816V) variant, which is highly prevalent in systemic mastocytosis (SM), is less common in AML.

 

Mastocytosis is a hematologic disorder characterized by abnormal mast cell expansion in the bone marrow and extramedullary organ sites (eg, skin, gastrointestinal tract). Disease can be localized to skin (ie, cutaneous mastocytosis: CM) or present systemically, with variable features of disease aggressiveness and symptomatology. Variants in the KIT gene are identified in a large majority of patients with both CM and SM. The D816V abnormality is identified in most patients with SM, and this finding represents an important minor diagnostic criterion in the 2008 WHO classification. The D816V is less commonly seen in CM, although single nucleotide variants are present in other KIT exons. Rare cases of familial mastocytosis are also described with KIT mutations involving exons 8 and 9. Although KIT gene mutation represents an important diagnostic marker for SM, the number of bone marrow mast cells is often limited in aspirate samples. Therefore, if SM is clinically and pathologically suspected, KIT testing should first proceed with a sensitive and specific screen for the D816V (KITVS / KIT Asp816Val Mutation Analysis, Varies) prior to consideration of KIT gene sequencing, based on the greatly enhanced sensitivity of the polymerase chain reaction test for this particular variant. In AML, KIT sequencing is preferred, given the wider spectrum of mutations in other KIT exons.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided

Interpretation
Provides information to assist in interpretation of the test results

Mutations detected or not detected. An interpretive report will be provided.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This test is intended to evaluate for the presence of somatically acquired KIT mutations in hematologic malignant neoplasms, specifically core-binding factor (CBF) acute myeloid leukemia with t(8;21)/RUNX1-RUNX1T1 or inv(16) or t(16;16)/CBFB-MYH11, although it may be useful in some cases of mastocytosis. This test does not detect mutations in the entire KIT gene, but is limited to alterations in exons 8, 9, 10, 11, and 17. The analytic sensitivity of this assay is approximately 20%. It is important to note that in many instances of systemic mastocytosis (SM), mast cell abundance in bone marrow aspirates is very limited and this test may result a false-negative for KIT mutation. Therefore, if SM is suspected clinically or pathologically, testing for the specific p.Asp816Val (D816V) by allele-specific PCR method should be strongly considered as the initial test (KITVS / KIT Asp816Val Mutation Analysis, Varies), prior to pursuing KIT sequencing.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Orfao A, Garcia-Montero AC, Sanchez L, Escribano L; REMA: Recent advances in the understanding of mastocytosis: the role of KIT mutations. Br J Haematol. 2007 Jul;138(1):12-30. doi: 10.1111/j.1365-2141.2007.06619.x

2. Arock M, Sotlar K, Broesby-Olsen S, et al: KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis. Leukemia. 2015 Jun;29(6):1223-1232. doi: 10.1038/leu.2015.24

3. Paschka P, Du J, Schlenk RF, et al: Secondary genetic lesions in acute myeloid leukemia with inv(16) or t(16;16): a study of the German-Austrian AML Study Group (AMLSG). Blood. 2013 Jan;121(1):170-177. doi: 10.1182/blood-2012-05-431486

4. Pardanani A: Systemic mastocytosis in adults: 2012 Update on diagnosis, risk stratification, and management. Am J Hematol. 2012 Apr;87(4):402-411. doi: 10.1002/ajh.23134

5. Paschka P, Marcucci G, Rupprt AS, et al: Adverse prognostic significance of KIT mutations in adult acute myeloid leukemia with inv(16) and t(8;21): a Cancer and Leukemia Group B Study. J Clin Oncol. 2006 Aug;24(24):3905-3911. doi: 10.1200/JCO.2006.06.9500

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

Total DNA is extracted from the sample and exons 8, 9, 10, 11, and 17 of the KIT gene are amplified by polymerase chain reaction followed by Sanger sequencing with evaluation by capillary electrophoresis. Review of the sequence data is performed using a combination of automated calls and manual inspection.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

5 to 8 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

DNA: 3 months; Peripheral blood, bone marrow: 2 weeks

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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 US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

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® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
KITE KIT Mutation, Hematologic Neoplasm 55201-8
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
39426 KIT Sequencing Result No LOINC Needed
MP027 Specimen Type 31208-2
37921 Final Diagnosis 50398-7

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports

Test Update Resources

Change Type Effective Date
Obsolete Test 2023-07-11