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CALRETICULIN MUTATION DETECTION, BLOOD

Test Code: CALR
Description: Calreticulin (CALR) is a multifunctional protein located in the endoplasmic reticulum. CALR functions as a calcium storage protein and has been implicated in regulation of transcription. In 2013 two groups independently reported that many patients with JAK2 V617F negative myeoproliferative neoplasms (essential thrombocythemia and primary myelofibrosis) were found to have insertions (most commonly 5 bp) or deletions (most commonly 52 bp) in exon 9 of CALR, resulting in frameshifts and a truncated CALR protein. Initial reports suggest that patients with CALR mutations have fewer thrombotic complications and a better prognosis than their JAK2 V617F counterparts.

The method employs PCR amplification of exon 9 using fluorescent labeled primers followed by capillary electrophoresis detection of deletions and insertions.


 
 


 
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