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JAK2 V617F Cascading Reflex to CALR, JAK2 Exon 12, MPL, and CSF3R
Test Code92472
CPT Codes
81270
Includes
Since these mutations are essentially mutually exclusive, reporting is done in a stepwise fashion based on mutation frequencies assessing JAK2 V617F, then exon 9 of CALR (calreticulin) (CPT code: 81219), then exon 12 of JAK2 (CPT code: 81279), then codon 505 and 515 of MPL (CPT code: 81339), and then two mutational hotspots in the CSF3R gene (CPT code: 81479).
Preferred Specimen
4 mL whole blood or 3 mL bone marrow aspirate collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL whole blood • 1 mL bone marrow aspirate
Other Acceptable Specimens
Whole blood or bone marrow aspirate collected in a sodium heparin (green-top) tube • Fixed cell pellet collected in a plastic leak-proof container • Extracted DNA from CLIA-certified laboratory collected in sterile leak-proof container
Instructions
Do not reject specimens, send to laboratory for screening.
Cell Pellets: Send fixed samples within 7 days of fixation date in a plastic, leak-proof tube/container. Indicate type of fixative used along with patient name, specimen source, date collected, and date harvested/fixed. Cell pellets submitted in Carnoy's or other alcohol-based fixatives are acceptable.
Cell Pellets: Send fixed samples within 7 days of fixation date in a plastic, leak-proof tube/container. Indicate type of fixative used along with patient name, specimen source, date collected, and date harvested/fixed. Cell pellets submitted in Carnoy's or other alcohol-based fixatives are acceptable.
Transport Temperature
Room temperature
Specimen Stability
Whole blood, bone marrow aspirate, Fixed cell pellet
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Extracted DNA
Room temperature: 7 days
Refrigerated: 14 days
Frozen: 1 year
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Extracted DNA
Room temperature: 7 days
Refrigerated: 14 days
Frozen: 1 year
Methodology
Polymerase Chain Reaction-based DNA Sequencing
FDA Status
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.
Setup Schedule
Monday-Sunday Afternoon Report available: 5 Days
Reference Range
See Laboratory Report
Clinical Significance
This DNA-based cascading reflex identifies the disease-defining mutations in four genes used for diagnosis and follow-up of myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF) and chronic neutrophilic leukemia (CNL).
Since these mutations are essentially mutually exclusive, reporting is done in a stepwise fashion based on mutation frequencies assessing JAK2 V617F, then exon 9 of CALR (calreticulin), then exon 12 of JAK2, then codon 505 and 515 of MPL, and then two mutational hotspots in the CSF3R gene. Once a pathogenic or MPN-associated mutation in a target gene is identified in this sequence, the remainder of the genes are not reported or billed. The reflexed assays test leukocytes from blood or bone marrow aspirates for clinically relevant hotspot mutations using an advanced DNA sequencing method.
This test does NOT include testing for BCR-ABL1 rearrangement in chronic myelogenous leukemia (CML) which can be detected by PCR using test code 91065 or FISH using code 12070.
Since these mutations are essentially mutually exclusive, reporting is done in a stepwise fashion based on mutation frequencies assessing JAK2 V617F, then exon 9 of CALR (calreticulin), then exon 12 of JAK2, then codon 505 and 515 of MPL, and then two mutational hotspots in the CSF3R gene. Once a pathogenic or MPN-associated mutation in a target gene is identified in this sequence, the remainder of the genes are not reported or billed. The reflexed assays test leukocytes from blood or bone marrow aspirates for clinically relevant hotspot mutations using an advanced DNA sequencing method.
This test does NOT include testing for BCR-ABL1 rearrangement in chronic myelogenous leukemia (CML) which can be detected by PCR using test code 91065 or FISH using code 12070.
