Test Catalog

Test ID: KITE    
KIT Mutation Exons 8-11 and 17, Hematologic Neoplasms, Sequencing, Varies

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)


Aids in establishing the diagnosis in some cases of mastocytosis

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


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).

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

See Acute Myeloid Leukemia: Testing Algorithm in Special Instructions

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

Mutation Detection in DNA Using Sanger Sequencing

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


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
Systemic mastocytosis