Somatic calreticulin (CALR) exon 9 mutations have been reported in 70-84% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF), without JAK2 or MPL mutations. The risk of thrombosis in patients with CALR-mutated ET was found to be significantly lower than in those with JAK2-mutated ET. These indel frameshift mutations occur in the C-terminus negatively charged domain of the CALR protein and result in a positively charged domain that exhibits cellular localization outside of the endoplasmic reticulum.
Synonyms
CALR
Sample Type
Blood and bone marrow aspirates
Collect
Lavender top
Preferred Volume
Blood: 3 mL
Bone marrow aspirates: 1 mL
Minimum Volume
Blood: 1 mL
Bone marrow aspirates: 0.5 mL
Remarks
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 at -20C: Unacceptable.
Unacceptable Conditions
Heparinized sample submitted.
Test Code
CALR
Performing Lab
Genomic Services - Molecular Diagnostics
Specimen Preparation
Do not centrifuge. Refrigerate sample but do not freeze. Ship room temperature.
Preferred Volume
Blood: 3 mL
Bone marrow aspirates: 1 mL
Minimum Volume
Blood: 1 mL
Bone marrow aspirates: 0.5 mL
Unacceptable Conditions
Heparinized sample submitted.
Stability (from collection to initiation)
Room temperature: 3 days
Refrigerated: 1 week
Frozen at -20C: Unacceptable.
Reference Interval
Negative
Additional Information
Somatic calreticulin (CALR) exon 9 mutations have been reported in 70-84% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF), without JAK2 or MPL mutations. The risk of thrombosis in patients with CALR-mutated ET was found to be significantly lower than in those with JAK2-mutated ET. These indel frameshift mutations occur in the C-terminus negatively charged domain of the CALR protein and result in a positively charged domain that exhibits cellular localization outside of the endoplasmic reticulum.
CPT Codes
81219
LDT or Modified FDA
Yes
Available Stat
No
Test Code
CALR
Performing Lab
Genomic Services - Molecular Diagnostics
Performed
Batched assay performed once every 1-2 weeks
Methodology
PCR/Fragment analysis and Direct Sequencing
Remarks
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top
Sample Type
Blood and bone marrow aspirates
Preferred Volume
Blood: 3 mL
Bone marrow aspirates: 1 mL
Minimum Volume
Blood: 1 mL
Bone marrow aspirates: 0.5 mL
Unacceptable Conditions
Heparinized sample submitted.
Specimen Preparation
Do not centrifuge. Refrigerate sample but do not freeze. Ship room temperature.
Reference Interval
Negative
Synonyms
CALR
Stability (from collection to initiation)
Room temperature: 3 days
Refrigerated: 1 week
Frozen at -20C: Unacceptable.
Reported
10-14 days
Additional Information
Somatic calreticulin (CALR) exon 9 mutations have been reported in 70-84% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF), without JAK2 or MPL mutations. The risk of thrombosis in patients with CALR-mutated ET was found to be significantly lower than in those with JAK2-mutated ET. These indel frameshift mutations occur in the C-terminus negatively charged domain of the CALR protein and result in a positively charged domain that exhibits cellular localization outside of the endoplasmic reticulum.
CPT Codes
81219
LDT or Modified FDA
Yes
Ordering
Available Stat
No
Performing Lab
Genomic Services - Molecular Diagnostics
Performed
Batched assay performed once every 1-2 weeks
Methodology
PCR/Fragment analysis and Direct Sequencing
Reported
10-14 days
Additional Information
Somatic calreticulin (CALR) exon 9 mutations have been reported in 70-84% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF), without JAK2 or MPL mutations. The risk of thrombosis in patients with CALR-mutated ET was found to be significantly lower than in those with JAK2-mutated ET. These indel frameshift mutations occur in the C-terminus negatively charged domain of the CALR protein and result in a positively charged domain that exhibits cellular localization outside of the endoplasmic reticulum.
Synonyms
CALR
Collection
Sample Type
Blood and bone marrow aspirates
Collect
Lavender top
Preferred Volume
Blood: 3 mL
Bone marrow aspirates: 1 mL
Minimum Volume
Blood: 1 mL
Bone marrow aspirates: 0.5 mL
Remarks
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 at -20C: Unacceptable.
Unacceptable Conditions
Heparinized sample submitted.
Processing
Test Code
CALR
Performing Lab
Genomic Services - Molecular Diagnostics
Specimen Preparation
Do not centrifuge. Refrigerate sample but do not freeze. Ship room temperature.
Preferred Volume
Blood: 3 mL
Bone marrow aspirates: 1 mL
Minimum Volume
Blood: 1 mL
Bone marrow aspirates: 0.5 mL
Unacceptable Conditions
Heparinized sample submitted.
Stability (from collection to initiation)
Room temperature: 3 days
Refrigerated: 1 week
Frozen at -20C: Unacceptable.
Result Interpretation
Reference Interval
Negative
Additional Information
Somatic calreticulin (CALR) exon 9 mutations have been reported in 70-84% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF), without JAK2 or MPL mutations. The risk of thrombosis in patients with CALR-mutated ET was found to be significantly lower than in those with JAK2-mutated ET. These indel frameshift mutations occur in the C-terminus negatively charged domain of the CALR protein and result in a positively charged domain that exhibits cellular localization outside of the endoplasmic reticulum.
Administrative
CPT Codes
81219
LDT or Modified FDA
Yes
Complete View
Available Stat
No
Test Code
CALR
Performing Lab
Genomic Services - Molecular Diagnostics
Performed
Batched assay performed once every 1-2 weeks
Methodology
PCR/Fragment analysis and Direct Sequencing
Remarks
Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.
Collect
Lavender top
Sample Type
Blood and bone marrow aspirates
Preferred Volume
Blood: 3 mL
Bone marrow aspirates: 1 mL
Minimum Volume
Blood: 1 mL
Bone marrow aspirates: 0.5 mL
Unacceptable Conditions
Heparinized sample submitted.
Specimen Preparation
Do not centrifuge. Refrigerate sample but do not freeze. Ship room temperature.
Reference Interval
Negative
Synonyms
CALR
Stability (from collection to initiation)
Room temperature: 3 days
Refrigerated: 1 week
Frozen at -20C: Unacceptable.
Reported
10-14 days
Additional Information
Somatic calreticulin (CALR) exon 9 mutations have been reported in 70-84% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF), without JAK2 or MPL mutations. The risk of thrombosis in patients with CALR-mutated ET was found to be significantly lower than in those with JAK2-mutated ET. These indel frameshift mutations occur in the C-terminus negatively charged domain of the CALR protein and result in a positively charged domain that exhibits cellular localization outside of the endoplasmic reticulum.
