Kit D816V Mutation Detection Other
- 81273 - QTY (1)
- Mastocytosis KIT D816V Other (paraffin embedded tissue)
Cleveland Clinic Laboratories
|Volume||Type||Container||Collect Temperature||Transport Temperature||Special Instructions|
|One||Clot||Formalin-fixed, paraffin-embedded block||Ambient||Ambient||Paraffin-embedded clots should be delivered to Anatomic Pathology for accessioning and cutting.|
|10 mm square||Paraffin block, formalin fixed||Formalin-fixed, paraffin-embedded block||Ambient||Ambient||Paraffin-embedded tissue should be delivered to Anatomic Pathology for accessioning and cutting.|
|Ambient||Paraffin-embedded tissue- indefinitely; Paraffin-embedded clot- indefinitely|
|Refrigerated||Paraffin-embedded tissue- unacceptable; Paraffin-embedded clot- unacceptable|
|Frozen||Paraffin-embedded tissue- unacceptable; Paraffin-embedded clot- unacceptable|
3 days per week
|Droplet Digital Polymerase Chain Reaction (PCR)|
May be reported with reduced sensitivity in cases of suboptimal amplification due to specimen type (with comment)
This assay uses Droplet Digital PCR to detect the KIT D816V mutation to aid in clinical diagnosis of systemic mastocytosis.
This test is designed to detect only the D816V variant in the KIT gene. Other variants in KIT will not be identified by this test. The lower limit of detection of this assay is approximately 0.1% variant allele fraction (vaf) for the KIT D816V variant. The result cannot be used as a standalone basis for diagnosis of malignancy, and needs to be considered in the context of clinical and morphologic presentation.