Specimen Collection Manual and Test Catalog
KIT D816, MUTATION ANALYSIS (MASTOCYTOSIS)
Geisinger Epic Procedure Code: LAB1043 Geisinger Epic ID: 52097Whole blood (preferred) bone marrow or formalin-fixed, paraffin embedded tissue or 10 slides in slide holder also acceptable
5 mL whole blood (preferred); minimum 2 mL; 2 mL bone marrow; minimum 0.5 mL or 10 slides; minimum 6 slides also acceptable.
Room temperature.
Whole blood and bone marrow: Room temperature: 7 days. Refrigerated: 7 days. Frozen: Unacceptable.
Tissue block and slides: Room temperature: Indefinitely. Refrigerated: Indefinitely. Frozen: Unacceptable.
Frozen specimens.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.
Quest test code 91772, KIT D816, Mu
Point mutation of the KIT oncogene at codon 816 (D816V) is seen in >90% of systemic mastocytosis (SM) cases. The presence of KIT D816V mutation is one of the minor criteria for diagnosis of SM and mutation testing can assist in diagnosis, particularly in limited specimens. KIT D816 mutations, including D816V, D816H and D816Y, are also the most common KIT mutations seen in the core-binding factor acute myeloid leukemia (AML). In both t(8;21) and inv(16)/t(16;16) AML, cases with KIT D816 mutation are associated with worse outcomes than unmutated cases. This PCR-based DNA pyrosequencing assay sensitively detects the KIT D816V mutation down to 2%. If KIT mutation testing of gastrointestinal stromal tumor (GIST) or melanoma is needed, test code 19961 should be used instead, which tests for exons 8, 9, 11, 13 and 17 of the KIT gene by Sanger sequencing.