KIT (D816V) Mutation Detection

Molecular

81273

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.

• 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 cut to 4 microns and 6-8 slides cut at 8 microns of BM clot or tissue fixed with 10% NBF fixative on non-charged slides. Please circle tumor for microdissection. Alternatively, the FFPE clock of the BM clot can be sent for sectioning in our lab.

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#.

5 - 7 days

Global