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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

Method Name

Allele-Specific Oligonucleotide Polymerase Chain Reaction (PCR)

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

Reference Values

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

Interpretation

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

Clinical Reference

1. Garcia-Montero AC, Jara-Acevedo M, Teodosio C, 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. 2006;108:2366-2372. doi:10.1182/blood-2006-04-015545

2. Valent P, Akin C, Sperr WR, et al. Diagnosis and treatment of systemic mastocytosis: state of the art. Br J Haematol. 2003;122:695-717. doi:10.1046/j.1365-2141.2003.04575.x

3. Jaffe ES, Harris NL, Stein H, et al. Pathology and Genetics. In: WHO Classification of Tumours of the Haematopoietic and Lymphoid Tissues. 2001:291-302. World Health Organization Classification of Tumours. Vol 2

4. Pardanani A. Systemic mastocytosis in adults: 2012 Update on diagnosis, risk stratification, and management. Am J Hematol. 2012;87:402-411. doi: 10.1002/ajh.23134.

5. Munoz-Gonzalez JI, Alvarez-Twose I, Jara-Acevedo M, et al. Frequency and prognostic impact of KIT and other genetic variants in indolent systemic mastocytosis. Blood. 2019; 134(5):456-468. doi:10.1182/blood.2018886507

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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

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