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KIT Mutations In Mastocytosis

Test Description

Screening for KIT kinase gene mutations in cases of mast cell disease is performed using an allele-specific real-time PCR assay that is specific for the D816V substitution. The sensitivity of this assay is estimated at 2% mutant cells.

Specimens Suitable For Testing

DiagnosisBone marrow core*Bone marrow clotBone marrow aspirate#Blood^Skin bxGI bx
Mastocytosis No

Specimen Processing Guidelines:

*Bone marrow cores: formalin-fixed is OK. Do not use fixatives such as Zenker’s, B5, Hollande’s.

#Aspirates: Aspirates should be shipped within 24 hrs. Please avoid shipping on Friday. EDTA or citrate tubes only. No heparin tubes.

How To Order This Test

Send the following items to Dr. Corless at the address below.

  1. Completed Test Requisition Form (including patient’s billing information).
  2. A paraffin block or 15 unstained slides (uncharged slides preferred) representative of the tumor.
  3. A copy of the original pathology report.

Shipping address:

Knight Diagnostic Laboratory
2525 SW 3rd Ave.
Ste. 350
Portland, OR 97201
Ph: 503-494-5400

CPT Codes

  CPT Code
Lysis of Cells, Paraffin* 83907
DNA extraction* 83890
Enzymatic digestion* 83892
Allele Specific PCR 83905
Professional Fee** 83912

*Lysis of cells not performed for bone marrow aspirate specimens. Lysis extraction and digestion are not performed for purified DNA specimens.
**Note: The professional fee is only for molecular testing. There is no pathology consultation fee.

For additional information, contact Knight Diagnostic Laboratory Services Center at 503-494-5400.

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