Sign in →

Order Code KITQ KIT p.Asp816Val Variant Analysis, Quantitative, Varies


Shipping Instructions


Whole blood or bone marrow specimens must arrive within 14 days of collection.



Necessary Information


Specimen type is required to perform testing.



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix.

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

3. Label specimen as blood.

Specimen Stability Information: Ambient (preferred) 14 days/Refrigerate 14 days

 

Specimen Type: Bone marrow aspirate

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix.

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

3. Label specimen as bone marrow.

Specimen Stability Information: Ambient (preferred) 14 days/Refrigerate 14 days

 

Specimen Type: Extracted DNA

Container/Tube: 1.5- to 2-mL tube

Specimen Volume: Entire specimen

Collection Instructions:

1. Label specimen as extracted DNA

2. Provide indication of volume of DNA.

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

Additional Information: We cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed, and a charge will be applied.

 

Specimen Type: Paraffin-embedded bone marrow aspirate clot

Container/Tube: Paraffin block

Specimen Stability Information: Ambient

 

Specimen Type: Tissue (FFPE)

Container/Tube: Paraffin block

Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block.

Specimen Stability Information: Ambient

Additional Information: Decalcified core biopsies are not accepted.


Useful For

Diagnosing systemic mastocytosis

Genetics Test Information

This test uses droplet digital polymerase chain reaction to detect the KIT NM_000222.3:c.2447A>T(p.Asp816Val) variant.

Method Name

Droplet Digital Polymerase Chain Reaction (ddPCR)

Reporting Name

KIT D816V Variant Analysis Quant, V

Specimen Type

Varies

Specimen Minimum Volume

Blood, bone marrow: 1 mL; Extracted DNA: 50 mcL at 10 ng/mcL concentration; Paraffin block: 1 block

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

Gross hemolysis Reject
Gross lipemia OK
Gross icterus Reject
Moderately to severely clotted Bone marrow core biopsies (decalcified embedded) Slides Paraffin shavings Reject

Reference Values

An interpretive report will be provided indicating the status as positive or negative for KIT p.Asp816Val (D816V).

KIT gene (NCBI accession NM_000222.3)

Method Description

This test is performed using droplet digital polymerase chain reaction (ddPCR) to detect the KIT:c.2447A>T, p.Asp816Val (NM_000222.3:g.55599321A>T) variant. DNA extracted from patient samples is PCR-amplified using oligonucleotide primers and mutant- and wild type-specific fluorescently labeled probes. Results are analyzed using dedicated software and Poisson statistics to provide absolute quantification of mutant target and wild type copies. Calculated results are reported as KIT p.D816V mutant fractional abundance (variant allele fraction %). The analytical sensitivity of this assay is 0.1%; however, sensitivity may be impacted by variability in tumor cell distribution or limited overall DNA quantity or quality.(Unpublished Mayo method)

Day(s) Performed

Monday through Friday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81273