KIT D816, Mutation Analysis (Mastocytosis)

Casandra

Casandra Test Code QD53199Version 1 (DRAFT)

Performing Lab

Lab Quest DiagnosticsLab Test ID 91772CPT Code 81273

KIT D816, Mutation Analysis (Mastocytosis)

Clinical Use

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.

Test Details