KIT Mutations In AML and Myeloproliferative Disease (MPD)
Test Description
KIT gene mutations in cases of AML and myeloproliferative disease are screened by high resolution melting curve analysis. Suspected mutations are confirmed by bi-directional DNA sequencing. The sensitivity of these assays is estimated at 20% mutant cells. Samples with smaller fractions of mutant cells may be unsuitable.
Specimens Suitable For Testing
| Diagnosis | Bone marrow core | Bone marrow clot | Bone marrow aspirate | Blood* | Skin bx | GI bx |
| Myeloproliferative dis. | √ | √ | √ | No | N/A | N/A |
| AML | √ | √ | √ | √ | N/A | N/A |
* Blood: Not recommended for myeloproliferative disorders, unless a significant fraction of circulating cells are likely to be mutant.
Specimen Fixation and Shipping Methods:
| Specimen | Fixation | Shipping Method |
| Bone Marrow Cores | Formalin-Fixed is OK. Do not use fixative such as Zenker's, B5, Hollande's. | Room Temperature |
| Bone Marrow Clot | Formalin-Fixed is OK. Do not use fixative such as Zenker's, B5, Hollande's. | Room Temperature |
| Bone Marrow Aspirate | No heparin tubes. | Ship within 24 hours. Please avoid shipping on Friday, if unavoidable please contact lab for instructions prior to shipment. |
| Blood | EDTA or citrate tubes only. No heparin tubes. | Room Temperature. Please avoid shipping on Friday, if unavoidable please contact lab for instructions prior to shipment. |
| Skin Bx | Formalin-Fixed is OK. Do not use fixative such as Zenker's, B5, Hollande's. | Room Temperature |
| GI Bx | Formalin-Fixed is OK. Do not use fixative such as Zenker's, B5, Hollande's. | Room Temperature |
How To Order This Test
To order BRAF and NRAS mutation screening, send the following items to Dr. Corless at the address below.
- Completed Test Requisition Form (including patient’s billing information).
- A paraffin block or 10 unstained slides or fresh aspirate or blood (AML only).
- 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 |
| PCR (per exon) | 83898 |
| DNA sequencing | 83904 |
| *Professional Fee | 83912 |
*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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