KIT (D816V) Mutation by ddPCR, Quantitative
Also known as: KITD816V Q
Companion Diagnostic
KIT (D816V) Mutation by ddPCR, Quantitative is an FDA-approved companion diagnostic used to help identify patients who may be eligible for targeted therapies.
Use
The KIT (D816V) Mutation by ddPCR, Quantitative test aids in the diagnosis of mastocytosis. It provides prognostic and predictive information for tyrosine kinase inhibitor (TKI) therapy planning. By detecting the KIT (D816V) mutation, clinicians can better understand the patient's condition and tailor treatment strategies accordingly. The test's ability to quantify variant allele frequency helps in assessing the mutation burden, which might contribute to the clinical decision-making process.
Special Instructions
This test is New York state approved. Ensure that whole blood or bone marrow specimens are collected in the correct containers. Do not freeze the samples and ensure that they are refrigerated during transport. Plasma, serum, FFPE tissue blocks/slides, and fresh or frozen tissue are unacceptable.
Limitations
The test is a Laboratory Developed Test (LDT) and has not been cleared or approved by the FDA. It is performed in a CLIA-certified laboratory for clinical purposes. The performance characteristics of the assay may be affected if non-validated specimen types are used. The test should not be used alone for a diagnosis of malignancy and results must be interpreted in the context of other clinical and morphologic data. The mutation can be detected down to 0.03 percent mutated alleles, but results below this threshold may not be identified.
FDA ApprovedNew York ApprovedCompanion Diagnostic
Methodology
PCR-based (ddPCR)
Biomarkers
LOINC Codes
- 31208-2
- 81258-6
- 88519-4
Result Turnaround Time
2-9 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
1 mL
Container
Lavender (EDTA) tube preferred; Green (sodium heparin) also acceptable
Storage Instructions
Refrigerated
Causes for Rejection
Plasma, serum, FFPE tissue blocks/slides, fresh or frozen tissue, and specimens collected in anticoagulants other than EDTA or sodium heparin. Clotted or grossly hemolyzed specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |
| Frozen | Unacceptable |