Kit D816V Mutation Detection Other
Test Mnemonic
K816O
CPT Codes
- 81273 - QTY (1)
Aliases
- Mastocytosis KIT D816V Other (paraffin embedded tissue)
Performing Laboratory
Cleveland Clinic Laboratories
Specimen Requirements
| 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. |
Stability
| Environmental Condition | Description |
|---|---|
| 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 |
Days Performed
3 days per week
Turnaround Time
5 days
Methodology
| Name | Description |
|---|---|
| Droplet Digital Polymerase Chain Reaction (PCR) |
Special Info
May be reported with reduced sensitivity in cases of suboptimal amplification due to specimen type (with comment)
Clinical Info
This assay uses Droplet Digital PCR to detect the KIT D816V mutation to aid in clinical diagnosis of systemic mastocytosis.
Clinical Limitation
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.