KIT D816, Mutation Analysis (Mastocytosis)
Use
Detection of the KIT D816V point mutation (Asp816Val) supports the diagnosis of systemic mastocytosis, as this mutation is the most frequent (~80–90%) genetic abnormality in adult cases and represents a minor diagnostic criterion according to WHO standards. It aids in confirming disease presence and may guide clinical evaluation of disease burden in peripheral blood versus bone marrow.
Special Instructions
Not provided.
Limitations
This assay may not detect mutations present below the analytical sensitivity threshold; certain specimen types such as frozen samples are not acceptable. Formalin-fixed, paraffin‑embedded tissue may have reduced sensitivity due to DNA fragmentation.
Methodology
NGS
Biomarkers
No genes
Gene
LOINC Codes
- 31208-2
- 55752-0
- 88519-4
- 50398-7
Result Turnaround Time
7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
2 mL
Container
EDTA (lavender‑top) tube
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 7 days |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant