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 high-resolution melting curve analysis, 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.
- Completed Test Requisition Form.
- A paraffin block or 15 unstained slides (uncharged slides preferred) representative of the tumor.
- 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 Knight Diagnostic Laboratory Services Center at 503-494-5400.
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 Knight Diagnostic PTRL, Research Tests Available, CPT Codes, Background Information