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Test Code KITBM KIT Asp816Val Mutation Analysis, Qualitative PCR, Bone Marrow

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Diagnosing systemic mastocytosis in bone marrow specimens

Method Name

Allele-Specific Oligonucleotide Polymerase Chain Reaction (PCR)

Reporting Name

KIT Asp816Val Mutation Analysis, BM

Specimen Type

Bone Marrow

Shipping Instructions

Specimen must arrive within 7 days (168 hours) of collection.

Necessary Information

The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date of collection

4. Specimen source

Specimen Required

Container/Tube: Bone marrow

Preferred: EDTA (lavender top)

Acceptable: ACD-B (yellow top)

Specimen Volume: 2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send specimen in original tube.

3. Label specimen as bone marrow.

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Bone Marrow Ambient (preferred) 7 days
  Refrigerated  7 days

Reject Due To


Mild OK; Gross reject






Moderately to severely clotted

Reference Values

An interpretive report will be provided indicating the mutation status as positive or negative.


The test will be interpreted as positive or negative for KIT Asp816Val.

Day(s) and Time(s) Performed

Monday through Friday

Analytic Time

4 days

Specimen Retention Time

DNA 3 months

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81273-KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (eg, mastocytosis), gene analysis, D816 variant(s)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
KITBM KIT Asp816Val Mutation Analysis, BM In Process


Result ID Test Result Name Result LOINC Value
34852 Final Diagnosis: 34574-4


1. Hematopathology Patient Information (T676) in Special Instructions

2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.