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HelpTest Code CALR Calreticulin (CALR) Mutation Analysis
Specimen Required
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Collection Container/Type: Lavender top (EDTA) or yellow top (ACD solution B)
Specimen Volume: 4 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
3. Label specimen as blood.
Additional Information: Do not reject specimens, send to laboratory for screening.
Specimen Type: Bone marrow
Collection Container/Type: Lavender top (EDTA) or yellow top (ACD solution B)
Specimen Volume: 3 mL
Collection Instructions:
-
nvert several times to mix bone marrow.
-
Send bone marrow specimen in original tube. Do not aliquot.
-
Label specimen as bone marrow.
Additional Information: Do not reject specimens, send to laboratory for screening.
Specimen Type: Extracted DNA from blood or bone marrow
Collection Container/Type: 1.5- to 2-mL tube
Specimen Volume: Entire specimen
Collection Instructions: Label specimen as extracted DNA from blood or bone marrow and include indication of volume and concentration of the DNA.
Additional Information: Do not reject specimens, send to laboratory for screening.
Specimen Minimum Volume
Whole blood: 3 mL
Bone marrow: 1 mL
Specimen Stability
Whole blood, bone marrow aspirate
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Extracted DNA
Room temperature: 7 days
Refrigerated: 14 days
Frozen: 1 year
Reference Range
See Laboratory Report
Rejection Due To
Do not reject specimens, send to laboratory for screening.
Day(s) and Time(s) Performed
Daily
Report Available
5-7 days
Clinical Significance
This DNA-based assay tests leukocytes from blood or bone marrow aspirate for mutations in exon 9 of calreticulin (CALR), using an advanced DNA sequencing method. Frameshift mutations in this region of CALR are associated with myeloproliferative neoplasms, particularly essential thrombocythemia and primary myelofibrosis.
Method Name
Polymerase Chain Reaction-based DNA Sequencing
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
CPT Code(s)
81219
Performing Laboratory
Quest Diagnostics Nichols Institute
14225 Newbrook Drive
Chantilly, VA 20153
Aliases
Polycythemia Vera (PV),PMF,PV,Primary Myelofibrosis (PMF),Essential Thrombocythemia (ET),ET,Myeloproliferative neoplasm