Ordering Recommendations

Recommended for diagnosis of MPN in patients who are negative for BCR-ABL1 and JAK2
variants and for assessing prognosis.

Tests Included

Sanger sequencing will be performed to identify the exact mutation when PCR results indicate that an insertion or deletion is present in exon 9.

Performed

Monday - Friday

Methodology

Polymerase Chain Reaction / Capillary Electrophoresis

Reported

Routine: 5 - 7 days

Synonyms

  • Calreticulin Exon 9 Mutation Analysis
  • CALR Exon 9 Mutation Analysis
  • Calreticulin Mutation Analysis, Blood
  • CALR Mutation Analysis, Blood
  • Blood, Calreticulin Mutation Analysis
  • Blood, CALR Mutation Analysis
  • Myeloproliferative Disorders
  • Hematological Malignancies
  • MPNs
  • Essential Thrombocythemia (ET)
  • Primary Myelofibrosis (PMF)
  • Idiopathic Myelofibrosis (MF)
  • Clonal Hematopoietic Stem Cell Malignancies
  • Clinical Genomics

Performing Lab

Clinical Genomics

Turnaround Time

7 days

Add-on Eligibility

Yes, within 7 days of collection
*If DNA has been extracted previously for other Clinical Genomics tests, this is stored for 6 weeks and may qualify for add-on

Specimen Type

Blood

Specimen Volume

5 mL (Minimum: 1 mL)

Collection Container

EDTA Whole Blood Tube (Lavender Top Vacutainer)

Unacceptable Conditions

  1. Severely clotted or grossly hemolyzed specimens
  2. Specimens that have been improperly collected, stored, or transported
  • Specimens collected in preservatives other than EDTA
    • ACD tubes are accepted, but EDTA is preferred
    • Heparinized specimens are accepted, but not recommended
  • Serum or plasma
  • Specimens that have been frozen
  • Commingled specimens
  1. Specimens in tubes that have been damaged or broken during transport
  2. Specimens with insufficient volume for testing
  3. Unlabeled or mislabeled specimens

Storage/Transport Temperature

Transport Instructions      
Collection Location Transport Temperature Processing Required Timeframe
ED/Inpatient Room Temperature None Specimen must be received by the lab within 24 hours of collection
Laboratory/Outpatient/Off-Site Room Temperature None Specimen must be received by the lab within 24 hours of collection

Storage: Refrigerated

Stability (from collection to initiation)

Stability:
Prior to Extraction:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen: Refrigerated
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 1 month
  • Extracted DNA: 6 weeks

Collection Instructions

Labelling Instructions:
When labeling blood tubes, leave a small window visible for the lab to assess the fill volume and sample integrity. Ensure that the barcode is in the correct orientation.


Collection Instructions:
Follow the correct order of draw when collecting with additional orders and tube types:
     

Reference Interval

Not Detected: Negative for a mutation in exon 9 of the CALR gene

Interpretive Data

Positive results are highly suggestive of MPN; however, a positive result should not be used as the sole criterion for diagnosis. Both positive and negative results should be interpreted in the context of all clinical and laboratory findings.
 
Calreticulin (CALR) Mutation Interpretation
Result Interpretation
Not Detected A mutation in CALR exon 9 is not detected. 
Detected A mutation in CALR exon 9 is detected. This finding is highly suggestive of MPN in conjunction with appropriate clinical and histological findings.
Ordering

Ordering Recommendations

Recommended for diagnosis of MPN in patients who are negative for BCR-ABL1 and JAK2
variants and for assessing prognosis.

Tests Included

Sanger sequencing will be performed to identify the exact mutation when PCR results indicate that an insertion or deletion is present in exon 9.

Performed

Monday - Friday

Methodology

Polymerase Chain Reaction / Capillary Electrophoresis

Reported

Routine: 5 - 7 days

Synonyms

  • Calreticulin Exon 9 Mutation Analysis
  • CALR Exon 9 Mutation Analysis
  • Calreticulin Mutation Analysis, Blood
  • CALR Mutation Analysis, Blood
  • Blood, Calreticulin Mutation Analysis
  • Blood, CALR Mutation Analysis
  • Myeloproliferative Disorders
  • Hematological Malignancies
  • MPNs
  • Essential Thrombocythemia (ET)
  • Primary Myelofibrosis (PMF)
  • Idiopathic Myelofibrosis (MF)
  • Clonal Hematopoietic Stem Cell Malignancies
  • Clinical Genomics

Performing Lab

Clinical Genomics

Turnaround Time

7 days

Add-on Eligibility

Yes, within 7 days of collection
*If DNA has been extracted previously for other Clinical Genomics tests, this is stored for 6 weeks and may qualify for add-on
Collection

Specimen Type

Blood

Specimen Volume

5 mL (Minimum: 1 mL)

Collection Container

EDTA Whole Blood Tube (Lavender Top Vacutainer)

Unacceptable Conditions

  1. Severely clotted or grossly hemolyzed specimens
  2. Specimens that have been improperly collected, stored, or transported
  • Specimens collected in preservatives other than EDTA
    • ACD tubes are accepted, but EDTA is preferred
    • Heparinized specimens are accepted, but not recommended
  • Serum or plasma
  • Specimens that have been frozen
  • Commingled specimens
  1. Specimens in tubes that have been damaged or broken during transport
  2. Specimens with insufficient volume for testing
  3. Unlabeled or mislabeled specimens

Storage/Transport Temperature

Transport Instructions      
Collection Location Transport Temperature Processing Required Timeframe
ED/Inpatient Room Temperature None Specimen must be received by the lab within 24 hours of collection
Laboratory/Outpatient/Off-Site Room Temperature None Specimen must be received by the lab within 24 hours of collection

Storage: Refrigerated

Stability (from collection to initiation)

Stability:
Prior to Extraction:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen: Refrigerated
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 1 month
  • Extracted DNA: 6 weeks

Collection Instructions

Labelling Instructions:
When labeling blood tubes, leave a small window visible for the lab to assess the fill volume and sample integrity. Ensure that the barcode is in the correct orientation.


Collection Instructions:
Follow the correct order of draw when collecting with additional orders and tube types:
     
Result Interpretation

Reference Interval

Not Detected: Negative for a mutation in exon 9 of the CALR gene

Interpretive Data

Positive results are highly suggestive of MPN; however, a positive result should not be used as the sole criterion for diagnosis. Both positive and negative results should be interpreted in the context of all clinical and laboratory findings.
 
Calreticulin (CALR) Mutation Interpretation
Result Interpretation
Not Detected A mutation in CALR exon 9 is not detected. 
Detected A mutation in CALR exon 9 is detected. This finding is highly suggestive of MPN in conjunction with appropriate clinical and histological findings.

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