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Geisinger Medical Laboratories Test Catalog
KIT D816, MUTATION ANALYSIS (MASTOCYTOSIS) |
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Geisinger Epic Procedure Code: LAB1043
Geisinger Epic ID: 52097
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SPECIMEN COLLECTION |
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Specimen type: |
Whole blood (preferred) bone marrow or formalin-fixed, paraffin embedded tissue or 10 slides in slide holder also acceptable | |
Preferred collection container: |
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Alternate Collection Container: |
Paraffin-embedded block
Glass Slides
4 mL green/green-top (sodium heparin) tube
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Specimen required: |
5 mL whole blood (preferred); minimum 2 mL; 2 mL bone marrow; minimum 0.5 mL or 10 slides; minimum 6 slides also acceptable. | |
| SPECIMEN PROCESSING |
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Transport temperature: |
Room temperature. | |
Specimen stability: |
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. |
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Rejection criteria: |
Frozen specimens. | |
TEST DETAILS |
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CPT code(s): |
81273 | |
| Note: The billing party has sole responsibility for CPT coding. Any questions regarding coding should be directed to the payer being billed. The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only. | ||
Methodology: |
DNA Sequencing |
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Synonyms: |
Quest test code 91772, KIT D816, Mu
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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. | |