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Kit Mutation (D816V) for Mastocytosis

C-kit Mutation

Test Codes

EPIC: LAB7101, Beaker: XCKIG, U of M: D816V

Department

Send Outs

Specimen Collection Criteria

Collect (preferred specimen): Blood in one Lavender-top EDTA or Yellow-top ACD tube. (Minimum: 1.0 mL)
Also acceptable: Bone marrow aspirate in one Lavender-top EDTA or Yellow-top ACD tube (Minimum: 0.5 mL) or Extracted DNA (50 ng/mcL).

Invert several times to mix blood or bone marrow.

Physician Office/Draw Specimen Preparation

Do not centrifuge. Maintain specimen in original collection tube, room temperature (20-26°C or 68-78.8°F) prior to transport.

Preparation for Courier Transport

Transport: 5.0 mL Blood or 3.0 mL bone marrow, room temperature (20-26°C or 68-78.8°F) in original collection tube. (Minimum: 0.5 mL)

Rejection Criteria

• Specimens that are clotted or grossly hemolyzed.
• Specimens not collected and processed as indicated.

In-Lab Processing

Do not centrifuge. Maintain specimen in original collection tube, room temperature (20-26°C or 68-78.8°F) prior to transport.

Transport: 3.0 mL Blood or 2.0 mL bone marrow, room temperature (20-26°C or 68-78.8°F) in original collection tube. (Minimum: 0.5 mL)

Storage

Specimen Stability for Testing:

Room temperature (20-26°C or 68-78.8°F): 48 hours
Refrigerated (2-8°C or 36-46°F): 48 hours
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions.

Laboratory

Sent to MLabs Ann Arbor, MI.

Performed

Monday – Friday.
Results available in 5-8 days.

Reference Range

By report.

Test Methodology

Allel-Specific Oligonucleotide Polymerase Chain Reaction (PCR) with capillary electrophoresis detection.

Clinical Utility

Detection of a mutation at the 816 codon is included as one of the minor diagnostic criteria for systemic mastocytosis in the World Health Organization classification system for hematopoietic neoplasms and is also of therapeutic relevance as it confers resistance to imatnib, a drug commonly used to treat CMPDs. The mutation has not been reported in normal tissues.

Clinical Disease

Systemic mastocytosis is a hematopoetic neoplasm that can be included in the general category of chronic myeloproliferative disorders (CMPDs. These neoplasms are characterized by excessive proliferation of one or more myeloid lineages, with cells filling the bone marrow and populating other hematopoetic sites. In systemic mastocytosis, mast cell proliferation is the defining feature, although other myeloid lineages and B-cells are frequently part of the neoplastic clone.

CPT Codes

81273

Contacts

Last Updated

9/18/2023