Test to determine if a patient with clinical indications of a myeloproliferative disorder has a calreticulin gene variant.
Genetics - Molecular Oncology
1x EDTA (Lavender) dedicated to Genetics (only one tube needed for JAK2/CALR/MPL testing)
Send to MONC
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 that was used for JAK2 V617F mutation testing.
Otherwise 4 ml peripheral blood in EDTA. 1-3 ml of bone marrow in EDTA or RPMI (anticoagulant). Send ambient to the laboratory.
CALR mutations are found in patients with JAK2 V617F 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.
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.
Limit of Detection: 1% mutant copies over total CALR gene copies.
If mutations are not detected in the CALR gene consider MPL gene mutation testing.
PCR and fragment analysis to detect insertion/deletion mutations in the coding region of exon 9 of the CALR gene.
Mutations are characterised by Sanger sequencing.
$280.03 (Exclusive of GST)
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