Polymerase Chain Reaction (PCR) followed by DNA sequence analysis
KIT gene mutations occur in approximately 25% of cases of acute myeloid leukemia (AML) with t(8;21) or inv(16), also referred to as core-binding factor AML. These mutations are predominately small length affecting mutations in KIT exon 8 and substitution mutations in KIT exon 17. KIT mutations in core-binding factor AML may be an adverse prognostic factor in this otherwise favorable-risk disease. This DNA sequencing test detects mutations in exons 8 and 17 of the KIT gene in blood and bone marrow specimens. This test will detect mutations in specimens when at least 30% of the nucleated cells carry the mutation.
Interpretive report provided.
The limit of detection of this assay is 30% mutation-bearing cells. Mutations may not be detected in samples with a neoplastic burden below this level.
3 - 10 days
- KIT Mutation Detection for Acute Myeloid Leukemia
- KIT Exon 8, 17 Mutations
Collect blood or bone marrow in a lavender top tube. Send intact specimen at room temperature or refrigerated within 48 hours of collection.
Collect blood or bone marrow in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection. Fresh tissue (preferably 0.5cm3, sent in RPMI) and fresh aspirates or body fluids are acceptable. Refrigerate and send, preferably within 24 hours. Frozen tissue specimens – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fresh cell suspensions in RPMI should be refrigerated and sent, preferably within 48 hours. Frozen cell suspensions – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice.
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes pathologist interpretation of results billed as a separate additional charge. This test is not available without interpretation.