Test Method

Molecular

CPT Codes

81273

Test Description

Bi-directional sequencing of KIT exons locate mutation D816V. The majority of mutations found in core-binding factor AML (CBF-AML), mast cell disease (systemic mastocytosis), and germ cell tumors are located in the tested exons. Mutation identification is necessary to determine TKI therapy.

Specimen Requirements

  • Bone marrow aspirate: 1-2 mL in EDTA tube (purple top) preferred; ACD (yellow top) acceptable
  • Peripheral blood: 5-10 mL in EDTA tube (purple top) preferred; ACD (yellow top) acceptable
  • Fresh Tissue: Minimum of 250 mg tissue in RPMI transport media
  • Formalin-Fixed Paraffin-Embedded Tissue: 1 H&E slide and 6-8 unstained slides, 8 microns of BM clot or tissue fixed with 10% NBF fixative. Please circle tumor for microdissection. alternatively, the FFPE clock of the BM clot can be sent for sectioning in our lab

Storage & Transport

Ship specimen the same day whenever possible, with refrigerated (not frozen) cold pack.

Label all tubes with at least two unique patient identifiers. Slides require one patient identifier. Identifiers include name, DOB, specimen ID# or medical record#.

Turnaround time

5 - 7 days

Level of Service

Global