Run 1st and 3rd Tuesday of every month, day shift only
Methodology
Fluorescent PCR with analysis by capillary electrophoresis
Reported
10-14 days
Additional Information
Mutations in exon 12 of NPM1 are the most frequent molecular alterations in AML with normal karyotype, found in 60% of AML cases (one third of adult cases). This mutation causes mislocalization of NPM1 and its aberrant accumulation in the cytoplasm. NPM1 mutations are associated with other recurrent genetic changes, including chromosome abnormalities such as +8, +4, del(9q), and additional gene mutations, most importantly in FLT3.
Prognosis of cytogenetically normal AML with NPM1 mutations, particularly in the absence of FLT3 internal tandem duplication (ITD) mutation, is favorable when treated with high dose daunorubicin chemotherapy (Patel et al, N Engl J Med. 2012).
Results from this test do not exclude the presence of NPM1 mutations below the detection limit of this assay (2.5%), or the presence of other NPM1 mutations not detected by this assay. Results of this test should be interpreted within the clinical context to determine whether additional testing is necessary. This test is not intended to detect minimal residual disease.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity clinical laboratory testing.
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Synonyms
Nucleophosmin
nucleolar phosphoprotein B23
numatrin
NPM-1
Sample Type
Blood, bone marrow aspirate, FFPE sections
Collect
Lavender top (EDTA)
Amount to Collect
Blood: 5 mL
Bone marrow aspirate: 3 mL
FFPE: 10 micron sections x5 on uncharged, unstained, glass slides plus one H&E stained section
Preferred Volume
Blood: 5 mL
Bone marrow aspirate: 3 mL
?FFPE: 10 micron sections x5 on uncharged, unstained, glass slides plus one H&E stained section
Minimum Volume
Blood: 2 mL
Bone marrow aspirate: 3 mL
?FFPE: 10 micron sections x3 on uncharged, unstained, glass slides plus one H&E stained section
Remarks
Avoid hemolysis. Due to stability issues these samples should only be collected at UCSF 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 1 week, frozen unacceptable.
Test Code
NPM1
Test Group
AML molecular markers
Performing Lab
Medical Genomics - Molecular Diagnostics
Specimen Preparation
Do not freeze blood or bone marrow samples. Ship to CB as soon as possible.
Preferred Volume
Blood: 5 mL
Bone marrow aspirate: 3 mL
?FFPE: 10 micron sections x5 on uncharged, unstained, glass slides plus one H&E stained section
Minimum Volume
Blood: 2 mL
Bone marrow aspirate: 3 mL
?FFPE: 10 micron sections x3 on uncharged, unstained, glass slides plus one H&E stained section
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 1 week, frozen unacceptable.
Reference Interval
Negative
Additional Information
Mutations in exon 12 of NPM1 are the most frequent molecular alterations in AML with normal karyotype, found in 60% of AML cases (one third of adult cases). This mutation causes mislocalization of NPM1 and its aberrant accumulation in the cytoplasm. NPM1 mutations are associated with other recurrent genetic changes, including chromosome abnormalities such as +8, +4, del(9q), and additional gene mutations, most importantly in FLT3.
Prognosis of cytogenetically normal AML with NPM1 mutations, particularly in the absence of FLT3 internal tandem duplication (ITD) mutation, is favorable when treated with high dose daunorubicin chemotherapy (Patel et al, N Engl J Med. 2012).
Results from this test do not exclude the presence of NPM1 mutations below the detection limit of this assay (2.5%), or the presence of other NPM1 mutations not detected by this assay. Results of this test should be interpreted within the clinical context to determine whether additional testing is necessary. This test is not intended to detect minimal residual disease.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity clinical laboratory testing.
CPT Codes
81310
LDT or Modified FDA
Yes
Available Stat
No
Test Code
NPM1
Test Group
AML molecular markers
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1st and 3rd Tuesday of every month, day shift only
Methodology
Fluorescent PCR with analysis by capillary electrophoresis
Remarks
Avoid hemolysis. Due to stability issues these samples should only be collected at UCSF Monday through noon Friday.
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top (EDTA)
Amount to Collect
Blood: 5 mL
Bone marrow aspirate: 3 mL
FFPE: 10 micron sections x5 on uncharged, unstained, glass slides plus one H&E stained section
Sample Type
Blood, bone marrow aspirate, FFPE sections
Preferred Volume
Blood: 5 mL
Bone marrow aspirate: 3 mL
?FFPE: 10 micron sections x5 on uncharged, unstained, glass slides plus one H&E stained section
Minimum Volume
Blood: 2 mL
Bone marrow aspirate: 3 mL
?FFPE: 10 micron sections x3 on uncharged, unstained, glass slides plus one H&E stained section
Specimen Preparation
Do not freeze blood or bone marrow samples. Ship to CB as soon as possible.
Reference Interval
Negative
Synonyms
Nucleophosmin
nucleolar phosphoprotein B23
numatrin
NPM-1
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 1 week, frozen unacceptable.
Reported
10-14 days
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Additional Information
Mutations in exon 12 of NPM1 are the most frequent molecular alterations in AML with normal karyotype, found in 60% of AML cases (one third of adult cases). This mutation causes mislocalization of NPM1 and its aberrant accumulation in the cytoplasm. NPM1 mutations are associated with other recurrent genetic changes, including chromosome abnormalities such as +8, +4, del(9q), and additional gene mutations, most importantly in FLT3.
Prognosis of cytogenetically normal AML with NPM1 mutations, particularly in the absence of FLT3 internal tandem duplication (ITD) mutation, is favorable when treated with high dose daunorubicin chemotherapy (Patel et al, N Engl J Med. 2012).
Results from this test do not exclude the presence of NPM1 mutations below the detection limit of this assay (2.5%), or the presence of other NPM1 mutations not detected by this assay. Results of this test should be interpreted within the clinical context to determine whether additional testing is necessary. This test is not intended to detect minimal residual disease.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity clinical laboratory testing.
CPT Codes
81310
LDT or Modified FDA
Yes
Ordering
Available Stat
No
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1st and 3rd Tuesday of every month, day shift only
Methodology
Fluorescent PCR with analysis by capillary electrophoresis
Reported
10-14 days
Additional Information
Mutations in exon 12 of NPM1 are the most frequent molecular alterations in AML with normal karyotype, found in 60% of AML cases (one third of adult cases). This mutation causes mislocalization of NPM1 and its aberrant accumulation in the cytoplasm. NPM1 mutations are associated with other recurrent genetic changes, including chromosome abnormalities such as +8, +4, del(9q), and additional gene mutations, most importantly in FLT3.
Prognosis of cytogenetically normal AML with NPM1 mutations, particularly in the absence of FLT3 internal tandem duplication (ITD) mutation, is favorable when treated with high dose daunorubicin chemotherapy (Patel et al, N Engl J Med. 2012).
Results from this test do not exclude the presence of NPM1 mutations below the detection limit of this assay (2.5%), or the presence of other NPM1 mutations not detected by this assay. Results of this test should be interpreted within the clinical context to determine whether additional testing is necessary. This test is not intended to detect minimal residual disease.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity clinical laboratory testing.
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Synonyms
Nucleophosmin
nucleolar phosphoprotein B23
numatrin
NPM-1
Collection
Sample Type
Blood, bone marrow aspirate, FFPE sections
Collect
Lavender top (EDTA)
Amount to Collect
Blood: 5 mL
Bone marrow aspirate: 3 mL
FFPE: 10 micron sections x5 on uncharged, unstained, glass slides plus one H&E stained section
Preferred Volume
Blood: 5 mL
Bone marrow aspirate: 3 mL
?FFPE: 10 micron sections x5 on uncharged, unstained, glass slides plus one H&E stained section
Minimum Volume
Blood: 2 mL
Bone marrow aspirate: 3 mL
?FFPE: 10 micron sections x3 on uncharged, unstained, glass slides plus one H&E stained section
Remarks
Avoid hemolysis. Due to stability issues these samples should only be collected at UCSF 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 1 week, frozen unacceptable.
Processing
Test Code
NPM1
Test Group
AML molecular markers
Performing Lab
Medical Genomics - Molecular Diagnostics
Specimen Preparation
Do not freeze blood or bone marrow samples. Ship to CB as soon as possible.
Preferred Volume
Blood: 5 mL
Bone marrow aspirate: 3 mL
?FFPE: 10 micron sections x5 on uncharged, unstained, glass slides plus one H&E stained section
Minimum Volume
Blood: 2 mL
Bone marrow aspirate: 3 mL
?FFPE: 10 micron sections x3 on uncharged, unstained, glass slides plus one H&E stained section
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 1 week, frozen unacceptable.
Result Interpretation
Reference Interval
Negative
Additional Information
Mutations in exon 12 of NPM1 are the most frequent molecular alterations in AML with normal karyotype, found in 60% of AML cases (one third of adult cases). This mutation causes mislocalization of NPM1 and its aberrant accumulation in the cytoplasm. NPM1 mutations are associated with other recurrent genetic changes, including chromosome abnormalities such as +8, +4, del(9q), and additional gene mutations, most importantly in FLT3.
Prognosis of cytogenetically normal AML with NPM1 mutations, particularly in the absence of FLT3 internal tandem duplication (ITD) mutation, is favorable when treated with high dose daunorubicin chemotherapy (Patel et al, N Engl J Med. 2012).
Results from this test do not exclude the presence of NPM1 mutations below the detection limit of this assay (2.5%), or the presence of other NPM1 mutations not detected by this assay. Results of this test should be interpreted within the clinical context to determine whether additional testing is necessary. This test is not intended to detect minimal residual disease.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity clinical laboratory testing.
Administrative
CPT Codes
81310
LDT or Modified FDA
Yes
Complete View
Available Stat
No
Test Code
NPM1
Test Group
AML molecular markers
Performing Lab
Medical Genomics - Molecular Diagnostics
Performed
Run 1st and 3rd Tuesday of every month, day shift only
Methodology
Fluorescent PCR with analysis by capillary electrophoresis
Remarks
Avoid hemolysis. Due to stability issues these samples should only be collected at UCSF Monday through noon Friday.
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top (EDTA)
Amount to Collect
Blood: 5 mL
Bone marrow aspirate: 3 mL
FFPE: 10 micron sections x5 on uncharged, unstained, glass slides plus one H&E stained section
Sample Type
Blood, bone marrow aspirate, FFPE sections
Preferred Volume
Blood: 5 mL
Bone marrow aspirate: 3 mL
?FFPE: 10 micron sections x5 on uncharged, unstained, glass slides plus one H&E stained section
Minimum Volume
Blood: 2 mL
Bone marrow aspirate: 3 mL
?FFPE: 10 micron sections x3 on uncharged, unstained, glass slides plus one H&E stained section
Specimen Preparation
Do not freeze blood or bone marrow samples. Ship to CB as soon as possible.
Reference Interval
Negative
Synonyms
Nucleophosmin
nucleolar phosphoprotein B23
numatrin
NPM-1
Stability (from collection to initiation)
Room temperature 3 days, refrigerated 1 week, frozen unacceptable.
Reported
10-14 days
Reflex Testing
An interpretation of this test by a laboratory physician will automatically be performed and billed for separately.
Additional Information
Mutations in exon 12 of NPM1 are the most frequent molecular alterations in AML with normal karyotype, found in 60% of AML cases (one third of adult cases). This mutation causes mislocalization of NPM1 and its aberrant accumulation in the cytoplasm. NPM1 mutations are associated with other recurrent genetic changes, including chromosome abnormalities such as +8, +4, del(9q), and additional gene mutations, most importantly in FLT3.
Prognosis of cytogenetically normal AML with NPM1 mutations, particularly in the absence of FLT3 internal tandem duplication (ITD) mutation, is favorable when treated with high dose daunorubicin chemotherapy (Patel et al, N Engl J Med. 2012).
Results from this test do not exclude the presence of NPM1 mutations below the detection limit of this assay (2.5%), or the presence of other NPM1 mutations not detected by this assay. Results of this test should be interpreted within the clinical context to determine whether additional testing is necessary. This test is not intended to detect minimal residual disease.
This test was developed and its performance characteristics determined by the UCSF Clinical Laboratories. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as qualified to perform high complexity clinical laboratory testing.
