KIT Mutations In Mastocytosis, MPD & AML

Test Description

Screening for KIT kinase gene mutations in cases of mast cell disease, myeloproliferative disease and AML is performed using assays developed by Michael Heinrich, MD, and Christopher Corless, MD, PhD. Detection methods include denaturing HPLC (Transgenomic WAVE™ system), allele-specific real-time PCR, and DNA sequencing.

Specimens That Are Suitable For Testing

Diagnosis	Bone marrow core*	Bone marrow clot	Bone marrow aspirate#	Blood^	Skin bx	GI bx
Mastocytosis	√	√	√	No	√	√
Myeloproliferative dis.	√	√	√	No	N/A	N/A
AML	√	√	√	√	N/A	N/A

*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.

^Blood: EDTA or citrate tubes only. No heparin tubes. Not recommended for myeloproliferative disorders, unless a significant fraction of circulating cells are likely to be mutant.

EDTA tubes can be shipped at room temperature if they are shipped overnight. If not please place specimen on wet-ice.

How To Order This Test
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To order KIT gene mutation screening, send the following items to Dr. Corless at the address below.

1. Completed Test Requisition Form.
2. Paraffin block or 10 unstained slides; or fresh aspirate; or blood.
3. Patient’s billing information.

Send to: Dr. Christopher Corless
    OHSU Dept. of Pathology (L471)
    3181 SW Sam Jackson Park Rd
    Portland, OR 97239
    Ph: 503-494-6776

For additional information, contact Rebecca Lewis (lewisr@ohsu.edu).

CPT Codes

	CPT code
Lysis of Cells, Paraffin	83907
DNA extraction	83890
Enzymatic digestion	83892
PCR (per exon)	83898
HPLC (1st two exons)	83903
HPLC (additional exons)	83903
DNA sequencing	83904
Allele-specific PCR	83905
*Professional Fee	88321

Links: Back to Pathology Translational Research, Research Tests Available, CPT Codes, Background Information

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Last Updated: 09/26/2008