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Test Identifier Information

 
Registration CodeMONC
Method

Fragment analysis to detect insertion/deletion mutations in the coding region of exon 9 of the CALR gene.  Mutations are characterised by Sanger sequencing.

Diagnostic Use / Indications

CALR mutations are found in patients with JAK2 mutation negative essential thrombocythemia (ET) and primary myelofibrosis (PMF).  Somatic mutations in CALR are found as insertions and deletions in exon 9.  These mutations in conjunction with clinical features of ET or PMF can be used as a tool in the diagnosis of these disorders. 

External Price$261.43(Exclusive of GST)
  

Specimen Collection

 
Pre-Testing Requirements

JAK2 V617F mutation analysis should be performed before ordering CALR testing on patients with clinical indicators of essential thrombocythemia or primary myelofibrosis.  We store all extracted DNA - please contact the laboratory if you would like CALR mutation testing performed on the same DNA used for JAK2 V617F mutation testing.

Patient Specimen4.0mL EDTA, peripheral blood or bone marrow asp.
Sample Delivery to LabSend to the laboratory at ambient temperature or 4C.
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Oncology
Contact Details Email Email
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Contact Phone Number03 3786 008 / x86008
Turnaround Time28 days
Reference Interval

NA

Interpretation

CALR exon 9 mutations are found in approximately 65% of non-JAK2 mutated ET and 85% of non-JAK2 mutated PMF. In both ET and PMF, CALR mutations are associated with a lower risk of thrombosis and longer overall survival than JAK2 mutations. Klamfl et al. (2013) NELM, 369(25):2379-2390.

Uncertainty of Measurement

Limit of Detection:  1% mutant copies over total CALR gene copies.

Additional Information

If mutations are not detected in the CALR gene consider MPL mutation testing.


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