Patients suspicious for chronic myeloproliferative disorders (PV, ET or PMF excluding CML), but having equivocal morphology and/or clinical picture. In cases suspected of PV, EPO level should be evaluated to rule out secondary erythrocytosis before JAK2 mutation test is considered; while, in cases suspicious for ET, serum iron and ferritin should be checked to rule out secondary thrombocytosis. The cases, which fulfill diagnostic criteria for PV or other MPD, are not indicated for this test because currently, JAK2 mutation has no prognostic significance and is not used as a minimal residual disease marker.
V617F is found in approximately 95% of patients with polycythemia vera. It is also found in approximately 50% of patients with essential thrombocytopenia (ET) or primary myelofibrosis (PMF). The detection of V617F complements histological findings aimed at the diagnosis of ET and PMF.
Available Stat
No
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 2x per week, Tuesday & Thursday, day shift only
Methodology
PCR and allele-specific hybridization
Reported
7-10 days
Additional Information
Clinical Significance: A somatic mutation in a highly conserved residue of the Janus kinase (JAK2) on chromosome 9 was detected in 80% of patients with polycythemia vera(PV), and 30-50% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). This point mutation in exon 14 of JAK2 alters codon 617 from a valine to a phenylalanine residue on JH2 domain of JAK2 kinase, thus disrupting auto-inhibitory property of this pseudokinase domain and leading to constitutive activation of the tyrosine kinase. This enhanced JAK2 kinase activity is thought to confer erythropoietin hypersensitivity and erythropoietin independent survival to the myeloid stem cells. Although JAK2 V617F mutation has been detected in variable percentage of patients with other type of myeloid malignancies, normal individuals tested so far are exclusively negative for the mutation.
Limitations: This assay has 1% DNA sensitivity of the JAK2 V617F mutation in a background of 99% DNA without the mutation. A positive result is strongly supportive of a diagnosis of PV, ET or CIMF.
A negative result does not rule out the presence of V617F at a level below the sensitivity of this assay and does not exclude the presence of other mutations in the JAK2 gene.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test.
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Synonyms
V617F
Myeloproliferative disorders
MPD
JAK2
Sample Type
EDTA Whole blood or bone marrow aspirate
Collect
Lavender top (3 mL)
Amount to Collect
Blood: 3 mL
Bone marrow aspirate: 1 mL
Preferred Volume
Blood: 3 mL
Bone marrow aspirate: 1 mL
Minimum Volume
Blood: 1 mL
Bone marrow aspirate: 0.4 mL
Remarks
Avoid hemolysis.
Due to stability issues these samples should only be collected Monday through noon Friday.
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 3 days, frozen at -20C Unacceptable.
Unacceptable Conditions
Heparinized sample submitted. Samples collected outside of stated time frames.
Test Code
JAK2
Test Group
JAK2
Performing Lab
Medical Genomics - Molecular Diagnostics
Specimen Preparation
Do not centrifuge. Refrigerate sample but do not freeze. Ship refrigerated.
Preferred Volume
Blood: 3 mL
Bone marrow aspirate: 1 mL
Minimum Volume
Blood: 1 mL
Bone marrow aspirate: 0.4 mL
Unacceptable Conditions
Heparinized sample submitted. Samples collected outside of stated time frames.
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 3 days, frozen at -20C Unacceptable.
Reference Interval
Negative
Additional Information
Clinical Significance: A somatic mutation in a highly conserved residue of the Janus kinase (JAK2) on chromosome 9 was detected in 80% of patients with polycythemia vera(PV), and 30-50% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). This point mutation in exon 14 of JAK2 alters codon 617 from a valine to a phenylalanine residue on JH2 domain of JAK2 kinase, thus disrupting auto-inhibitory property of this pseudokinase domain and leading to constitutive activation of the tyrosine kinase. This enhanced JAK2 kinase activity is thought to confer erythropoietin hypersensitivity and erythropoietin independent survival to the myeloid stem cells. Although JAK2 V617F mutation has been detected in variable percentage of patients with other type of myeloid malignancies, normal individuals tested so far are exclusively negative for the mutation.
Limitations: This assay has 1% DNA sensitivity of the JAK2 V617F mutation in a background of 99% DNA without the mutation. A positive result is strongly supportive of a diagnosis of PV, ET or CIMF.
A negative result does not rule out the presence of V617F at a level below the sensitivity of this assay and does not exclude the presence of other mutations in the JAK2 gene.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test.
CPT Codes
81270
LDT or Modified FDA
Yes
LOINC Codes
48726-4
Available Stat
No
Ordering Recommendations
Patients suspicious for chronic myeloproliferative disorders (PV, ET or PMF excluding CML), but having equivocal morphology and/or clinical picture. In cases suspected of PV, EPO level should be evaluated to rule out secondary erythrocytosis before JAK2 mutation test is considered; while, in cases suspicious for ET, serum iron and ferritin should be checked to rule out secondary thrombocytosis. The cases, which fulfill diagnostic criteria for PV or other MPD, are not indicated for this test because currently, JAK2 mutation has no prognostic significance and is not used as a minimal residual disease marker.
V617F is found in approximately 95% of patients with polycythemia vera. It is also found in approximately 50% of patients with essential thrombocytopenia (ET) or primary myelofibrosis (PMF). The detection of V617F complements histological findings aimed at the diagnosis of ET and PMF.
Test Code
JAK2
Test Group
JAK2
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 2x per week, Tuesday & Thursday, day shift only
Methodology
PCR and allele-specific hybridization
Remarks
Avoid hemolysis.
Due to stability issues these samples should only be collected Monday through noon Friday.
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top (3 mL)
Amount to Collect
Blood: 3 mL
Bone marrow aspirate: 1 mL
Sample Type
EDTA Whole blood or bone marrow aspirate
Preferred Volume
Blood: 3 mL
Bone marrow aspirate: 1 mL
Minimum Volume
Blood: 1 mL
Bone marrow aspirate: 0.4 mL
Unacceptable Conditions
Heparinized sample submitted. Samples collected outside of stated time frames.
Specimen Preparation
Do not centrifuge. Refrigerate sample but do not freeze. Ship refrigerated.
Reference Interval
Negative
Synonyms
V617F
Myeloproliferative disorders
MPD
JAK2
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 3 days, frozen at -20C Unacceptable.
Reported
7-10 days
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Additional Information
Clinical Significance: A somatic mutation in a highly conserved residue of the Janus kinase (JAK2) on chromosome 9 was detected in 80% of patients with polycythemia vera(PV), and 30-50% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). This point mutation in exon 14 of JAK2 alters codon 617 from a valine to a phenylalanine residue on JH2 domain of JAK2 kinase, thus disrupting auto-inhibitory property of this pseudokinase domain and leading to constitutive activation of the tyrosine kinase. This enhanced JAK2 kinase activity is thought to confer erythropoietin hypersensitivity and erythropoietin independent survival to the myeloid stem cells. Although JAK2 V617F mutation has been detected in variable percentage of patients with other type of myeloid malignancies, normal individuals tested so far are exclusively negative for the mutation.
Limitations: This assay has 1% DNA sensitivity of the JAK2 V617F mutation in a background of 99% DNA without the mutation. A positive result is strongly supportive of a diagnosis of PV, ET or CIMF.
A negative result does not rule out the presence of V617F at a level below the sensitivity of this assay and does not exclude the presence of other mutations in the JAK2 gene.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test.
CPT Codes
81270
LDT or Modified FDA
Yes
LOINC Codes
48726-4
Ordering
Ordering Recommendations
Patients suspicious for chronic myeloproliferative disorders (PV, ET or PMF excluding CML), but having equivocal morphology and/or clinical picture. In cases suspected of PV, EPO level should be evaluated to rule out secondary erythrocytosis before JAK2 mutation test is considered; while, in cases suspicious for ET, serum iron and ferritin should be checked to rule out secondary thrombocytosis. The cases, which fulfill diagnostic criteria for PV or other MPD, are not indicated for this test because currently, JAK2 mutation has no prognostic significance and is not used as a minimal residual disease marker.
V617F is found in approximately 95% of patients with polycythemia vera. It is also found in approximately 50% of patients with essential thrombocytopenia (ET) or primary myelofibrosis (PMF). The detection of V617F complements histological findings aimed at the diagnosis of ET and PMF.
Available Stat
No
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 2x per week, Tuesday & Thursday, day shift only
Methodology
PCR and allele-specific hybridization
Reported
7-10 days
Additional Information
Clinical Significance: A somatic mutation in a highly conserved residue of the Janus kinase (JAK2) on chromosome 9 was detected in 80% of patients with polycythemia vera(PV), and 30-50% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). This point mutation in exon 14 of JAK2 alters codon 617 from a valine to a phenylalanine residue on JH2 domain of JAK2 kinase, thus disrupting auto-inhibitory property of this pseudokinase domain and leading to constitutive activation of the tyrosine kinase. This enhanced JAK2 kinase activity is thought to confer erythropoietin hypersensitivity and erythropoietin independent survival to the myeloid stem cells. Although JAK2 V617F mutation has been detected in variable percentage of patients with other type of myeloid malignancies, normal individuals tested so far are exclusively negative for the mutation.
Limitations: This assay has 1% DNA sensitivity of the JAK2 V617F mutation in a background of 99% DNA without the mutation. A positive result is strongly supportive of a diagnosis of PV, ET or CIMF.
A negative result does not rule out the presence of V617F at a level below the sensitivity of this assay and does not exclude the presence of other mutations in the JAK2 gene.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test.
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Synonyms
V617F
Myeloproliferative disorders
MPD
JAK2
Collection
Sample Type
EDTA Whole blood or bone marrow aspirate
Collect
Lavender top (3 mL)
Amount to Collect
Blood: 3 mL
Bone marrow aspirate: 1 mL
Preferred Volume
Blood: 3 mL
Bone marrow aspirate: 1 mL
Minimum Volume
Blood: 1 mL
Bone marrow aspirate: 0.4 mL
Remarks
Avoid hemolysis.
Due to stability issues these samples should only be collected Monday through noon Friday.
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 3 days, frozen at -20C Unacceptable.
Unacceptable Conditions
Heparinized sample submitted. Samples collected outside of stated time frames.
Processing
Test Code
JAK2
Test Group
JAK2
Performing Lab
Medical Genomics - Molecular Diagnostics
Specimen Preparation
Do not centrifuge. Refrigerate sample but do not freeze. Ship refrigerated.
Preferred Volume
Blood: 3 mL
Bone marrow aspirate: 1 mL
Minimum Volume
Blood: 1 mL
Bone marrow aspirate: 0.4 mL
Unacceptable Conditions
Heparinized sample submitted. Samples collected outside of stated time frames.
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 3 days, frozen at -20C Unacceptable.
Result Interpretation
Reference Interval
Negative
Additional Information
Clinical Significance: A somatic mutation in a highly conserved residue of the Janus kinase (JAK2) on chromosome 9 was detected in 80% of patients with polycythemia vera(PV), and 30-50% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). This point mutation in exon 14 of JAK2 alters codon 617 from a valine to a phenylalanine residue on JH2 domain of JAK2 kinase, thus disrupting auto-inhibitory property of this pseudokinase domain and leading to constitutive activation of the tyrosine kinase. This enhanced JAK2 kinase activity is thought to confer erythropoietin hypersensitivity and erythropoietin independent survival to the myeloid stem cells. Although JAK2 V617F mutation has been detected in variable percentage of patients with other type of myeloid malignancies, normal individuals tested so far are exclusively negative for the mutation.
Limitations: This assay has 1% DNA sensitivity of the JAK2 V617F mutation in a background of 99% DNA without the mutation. A positive result is strongly supportive of a diagnosis of PV, ET or CIMF.
A negative result does not rule out the presence of V617F at a level below the sensitivity of this assay and does not exclude the presence of other mutations in the JAK2 gene.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test.
Administrative
CPT Codes
81270
LDT or Modified FDA
Yes
LOINC Codes
48726-4
Complete View
Available Stat
No
Ordering Recommendations
Patients suspicious for chronic myeloproliferative disorders (PV, ET or PMF excluding CML), but having equivocal morphology and/or clinical picture. In cases suspected of PV, EPO level should be evaluated to rule out secondary erythrocytosis before JAK2 mutation test is considered; while, in cases suspicious for ET, serum iron and ferritin should be checked to rule out secondary thrombocytosis. The cases, which fulfill diagnostic criteria for PV or other MPD, are not indicated for this test because currently, JAK2 mutation has no prognostic significance and is not used as a minimal residual disease marker.
V617F is found in approximately 95% of patients with polycythemia vera. It is also found in approximately 50% of patients with essential thrombocytopenia (ET) or primary myelofibrosis (PMF). The detection of V617F complements histological findings aimed at the diagnosis of ET and PMF.
Test Code
JAK2
Test Group
JAK2
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 2x per week, Tuesday & Thursday, day shift only
Methodology
PCR and allele-specific hybridization
Remarks
Avoid hemolysis.
Due to stability issues these samples should only be collected Monday through noon Friday.
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top (3 mL)
Amount to Collect
Blood: 3 mL
Bone marrow aspirate: 1 mL
Sample Type
EDTA Whole blood or bone marrow aspirate
Preferred Volume
Blood: 3 mL
Bone marrow aspirate: 1 mL
Minimum Volume
Blood: 1 mL
Bone marrow aspirate: 0.4 mL
Unacceptable Conditions
Heparinized sample submitted. Samples collected outside of stated time frames.
Specimen Preparation
Do not centrifuge. Refrigerate sample but do not freeze. Ship refrigerated.
Reference Interval
Negative
Synonyms
V617F
Myeloproliferative disorders
MPD
JAK2
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 3 days, frozen at -20C Unacceptable.
Reported
7-10 days
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Additional Information
Clinical Significance: A somatic mutation in a highly conserved residue of the Janus kinase (JAK2) on chromosome 9 was detected in 80% of patients with polycythemia vera(PV), and 30-50% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). This point mutation in exon 14 of JAK2 alters codon 617 from a valine to a phenylalanine residue on JH2 domain of JAK2 kinase, thus disrupting auto-inhibitory property of this pseudokinase domain and leading to constitutive activation of the tyrosine kinase. This enhanced JAK2 kinase activity is thought to confer erythropoietin hypersensitivity and erythropoietin independent survival to the myeloid stem cells. Although JAK2 V617F mutation has been detected in variable percentage of patients with other type of myeloid malignancies, normal individuals tested so far are exclusively negative for the mutation.
Limitations: This assay has 1% DNA sensitivity of the JAK2 V617F mutation in a background of 99% DNA without the mutation. A positive result is strongly supportive of a diagnosis of PV, ET or CIMF.
A negative result does not rule out the presence of V617F at a level below the sensitivity of this assay and does not exclude the presence of other mutations in the JAK2 gene.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test.
