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Test Code KITVS KIT Asp816Val Mutation Analysis, Varies


Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 3 mL

Collections Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube. Do not aliquot.

3. Label specimen as blood.

Specimen Stability Information: Ambient (preferred) 7 days/Refrigerate 7 days

 

Specimen Type: Bone marrow

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 2 mL

Collections Instructions:

1. Invert several times to mix bone marrow.

2. Send specimens in original tube. Do not aliquot.

3. Label specimen as bone marrow.

Specimen Stability Information: Ambient (preferred) 7 days/Refrigerate 7 days

 

Specimen Type: Extracted DNA from blood or bone marrow

Container/Tube: 1.5- to 2-mL tube

Specimen Volume: Entire specimen

Collection Instructions:

1. Label specimen as extracted DNA from blood or bone marrow.

2. Provide indication of volume and concentration of DNA.

Specimen Stability Information: Frozen (preferred)/Refrigerated/Ambient


Forms

1. Hematopathology Patient Information (T676)

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

Useful For

Diagnosing systemic mastocytosis using blood or bone marrow specimens

Reporting Name

KIT Asp816Val Mutation Analysis, V

Specimen Type

Varies

Specimen Minimum Volume

Blood, Bone Marrow: 1 mL
Extracted DNA: 50 mcL at 20 ng/mcL concentration

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

Gross hemolysis Reject
Moderately to severely clotted
Bone marrow biopsies
Paraffin-embedded bone marrow clots
Paraffin-embedded tissue
Slides
Paraffin shavings		 Reject

Reference Values

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

Supportive Data

The analytic sensitivity of this test is 0.1% and was determined by the dilution of a cell line containing homozygous KIT alteration. This means that 0.1% or greater of the KIT alleles present in the specimen must contain the alteration to be detected by the assay. The analytic specificity was 100% in assay validation.

Specimen Retention Time

Whole blood, bone marrow: 2 weeks; Extracted DNA: 3 Months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81273

LOINC Code Information

Test ID Test Order Name Order LOINC Value
KITVS KIT Asp816Val Mutation Analysis, V 55201-8

 

Result ID Test Result Name Result LOINC Value
MP055 Specimen Type 31208-2
607982 Interpretation 69047-9
607983 Signing Pathologist 19139-5

Day(s) Performed

Monday through Friday

Report Available

4 to 7 days