5179 : C-KIT (D816V)

INFORMATION:

Alternate Name:

Systemic Mastocytosis

Methodology:

Pyrosequencing

Clinical Utility:

Systemic mastocytosis is characterized by the infilitration of clonal mast cells in the bone marrow, tissue, liver, and skin. Mutational testing for KIT D816V is a diagnostic tool for systemic mastocytosis because the majority of confirmed diagnoses harbor this mutation. Bone marrow evaluation is the primary diagnostic tool for systemic mastocytosis and provides the most reliable prognosis. Patients that harbor the KIT mutation exhibit resistance to tyrosine kinase inhibitor therapy, such as imatinib. When KIT is mutated in the presence of RUNX1 the patient prognosis is unfavorable.

ORDERING:

Test Code:

5179-7

Turnaround Time:

4 DAYS

Preferred Specimen:

2 mL Bone Marrow - Lavender Top

Collection:

Container	Qty	Temp	Stability
Bone Marrow - Lavender Top	1	Refrigerate	7 DAYS

Collection Instructions:

BML: Place bone marrow into tube, label with patient's name

Storage Transport Instructions:

Custom Instruction: Place bone marrow into tube, label with patient's name. Send in bone marrow kit.
Storage/Transport Instruction: Please include specimen collection date on requisition, Time Sensitive

Specimen Comment:

If submitting Peripheral Blood Lav, 5 ml is required. Alternative specimen: Extracted DNA is acceptable, providing that the isolation of nucleic acid occurs in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by CMS and/or the CAP.

Alternative Specimen:

Peripheral Blood - Lavender Top, Peripheral Blood - Green Top, Bone Marrow - Green Top