• Test Code:
  • Department:
    Hematological Malignancies
  • Test Synonyms:
    KIT (cKIT) Mutation Screening for Mastocytosis and Mast Cell Leukemia (exon 17)
  • CPT Code(s):

KIT gene mutations are present in the majority cases of mast cell disease/systemic mastocytosis.1,2

  • Adults
    • D816V mutation is present in 93% of cases3
    • Other mutations are rare (exon 17 D816Y, 815-817 indels; exon 11)
  • Children4
    • D816V mutation is present in 36%
    • Exon 8 in 18% (mostly del 419)(hereditary in some cases)
    • Exon 9 in 20% (ITD 502-503; K509I) (hereditary in some cases)
    • Exon 11 (rare)


DNA is extracted and purified from fresh blood, bone marrow aspirate, paraffin-embedded bone marrow biopsy, clot or other tissue (e.g. skin, GI biopsy).

  • Samples from adult patients are screened for the D816V mutation by real-time allele-specific PCR that includes an internal positive control for DNA quality.
    • Sensitivity: 1% mutant allele
  • Samples from pediatric patients are screened for the D816V mutation by the above assay; negative samples are further screened for mutations in KIT exons 8, 9 & 11 by standard sequencing.
    • Sensitivity (exons 8, 9, 11): 20% mutant allele

Specimen Requirements:

Paraffin blocks or slides:

    • A paraffin block, or
    • 10 unstained sections of tumor (4-5 microns) (15 sections for small biopsies).
    • Due to DNA damage, decalcified specimens are not recommended.

Blood or bone marrow:

    • 2-10 mL Yellow (ACD) or purple (EDTA) tube (unspun)
    • Bone marrow aspirates or cores are acceptable if received in the lab within 24 hours (room temperature) or 4 days (refrigerated; never frozen).
    • Frozen cell pellets of bone marrow-derived leukocytes (without red blood cells) are also acceptable.

Deliver to lab at shipping address above within 24 hours of collection;  if sample cannot arrive within 24 hours, refrigerate until sample can be transported. 

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information.

Test Performed (Days):

Mon – Fri

Turn Around Time:

7-10 days

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cool during transit, but not frozen, unless shipping frozen pellets.
  • Ship via overnight express, using the FedEx priority overnight label provided.

 Contact Client Services for shipping kits and instructions at (855) 535-1522.


  1. Tefferi & Pardanani. Systemic mastocytosis: current concepts and treatment advances. Curr Hematol Rep. 3:197-202, 2004.
  2. Pardanani et al. Imatinib for systemic mast-cell disease. Lancet. 362(9383):535-6, 2003.
  3. Garcia-Montero et al. KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood. 108:2366-72, 2006.
  4. Bodemer et al. Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations J Inves Dermatol 130:804-815, 2009.

Additional Info: