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KIT D816, Mutation Analysis (Mastocytosis)
Test CodeKD816
Alias/See Also
91772
CPT Codes
81273
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
2 mL whole blood • 0.5 mL bone marrow • 6 slides
Other Acceptable Specimens
Whole blood collected in: Sodium heparin (green-top) or ACD-B (yellow-top) tube • 2 mL bone marrow aspirate collected in an EDTA (lavender-top) tube • Formalin-fixed, paraffin-embedded tissue block • 10 slides tissue submitted in a slide holder
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Refrigerated: 7 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Frozen specimens
Methodology
Next Generation Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Monday-Sunday Morning Report available: 7 Days after receipt at the performing laboratory. Add two (2) days for transport.
Reference Range
Not detected
Clinical Significance
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.
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.
Performing Laboratory
Quest Diagnostics Nichols Institute
14225 Newbrook Drive
Chantilly, VA 20153
Last Updated: May 5, 2023
