Kit Mutation Detection, Mastocytosis

Sunquest Code:KITSGCoPath Code:KITSG
Epic Code:LAB8072Epic Name:Kit Mutation Detection, Mastocytosis
Synonyms:Proto-Oncogene Receptor; Tyrosine Kinase; C-Kit
Methodology:Next generation sequencing
Turnaround Time:Performed Mon-Fri; results are reported within 10-14 days.

Collection Instructions

Specimen:Blood, bone marrow
Optimal Volume:10 mL blood, 3 mL bone marrow
Minimum\Peds Volume:3 mL blood, 1 mL bone marrow
Container:Yellow (ACD, Solution A) tube available from laboratory (Purple (EDTA))
Collection Instructions:Bone marrow clot acceptable for testing.
Causes for Rejection:Whole blood: frozen or clotted specimen, incorrect anticoagulant, specimen more than 5 days old. All testing will be cancelled if engraftment testing is 100% donor engrafted in consultation with clinician.
Shared blood or bone marrow samples will not be accepted unless sent to Molecular first. Contamination will occur on automated hematology analyzers.
The diagnostic sample for hematology panels (not including MPN) requires at least 20% blasts to perform testing. Follow up samples for the hematology panels will be tested for all the gene(s) positive in the diagnostic sample.

Processing and Shipping

Specimen Processing:Do not process. Store at room temperature.
Shipping Instructions:Ship at room temperature. Do not refrigerate or freeze.
Stability:Whole blood samples are stable for 5 days at room temperature. Do not refrigerate or freeze.
Test Performed at or Referral Lab Molecular Diagnostics  (UMMC-East Bank)


Reference Range:See interpretive report.
Use:This assay detects the D816V mutation characteristic of systemic mastocytosis and will also detect alternate mutations seen more commonly in cutaneous mastocytosis. This assay ideally requires 5-10% mast cells for analysis.

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