KIT D816, Mutation Analysis (Mastocytosis) : 91772

Test Code
KIT816 or 91772

CPT Codes
81273

Instructions
Preferred: whole blood in EDTA (lavender-top) tube.

Alternate: whole blood in ACD-B (yellow-top) or sodium heparin (green-top) tube; bone marrow in an EDTA (lavender-top) tube or sodium heparin (green-top) tube; Formalin-fixed paraffin-embedded tissue block; 10 tissue slides,

Transport Container
Transport: 5 mL whole blood (Minimum 2 mL) OR 2 mL bone marrow (Minimum 0.5 mL) OR Block OR 10 Slides (Minimum 6 slides).

Transport Temperature
Ambient.

Specimen Stability
Whole blood or bone marrow: Room temperature: 7 days; Refrigerated: 7 days; Frozen: Unacceptable

Formalin-fixed paraffin embedded tissue or slides: Room temperature: Indefinite; Refrigerated: Indefinite; Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen.

Methodology
DNA Sequencing

Setup Schedule
Sunday - Saturday

Report Available
5 days (From receipt at performing laboratory)

Limitations
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Reference Range
Not detected

Clinical Significance
Point mutation of the KIT oncogene at codon 816 (D816V) is seen in >90% of systemic mastocytosis (SM) cases. The presence of KIT D816V mutation is one of the minor criteria for diagnosis of SM and mutation testing can assist in diagnosis, particularly in limited specimens. KIT D816 mutations, including D816V, D816H and D816Y, are also the most common KIT mutations seen in the core-binding factor acute myeloid leukemia (AML). In both t(8;21) and inv(16)/t(16;16) AML, cases with KIT D816 mutation are associated with worse outcomes than unmutated cases.
This PCR-based DNA pyrosequencing assay sensitively detects the KIT D816V mutation down to 2%.

Performing Laboratory
Quest Diagnostics



The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.