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Calreticulin, Exon 9 Mutation Analysis

Item Value
Available Stat? No
Test code CALR
Performed by Medical Genomics - Molecular Diagnostics
In House Availability Batched assay performed once every 1-2 weeks
Method PCR/Fragment analysis and Direct Sequencing
Collection Instructions Avoid hemolysis. Due to stability issues these samples should only be collected at UCSF Monday through noon Friday.

Do not collect sample in heparin. Keep sample refrigerated for overnight or longer storage.

For NON-UCSF samples, please fill out the form at:

Note: We only perform institutional billing
Container type Lavender top
Amount to Collect 3 ml blood
Sample type EDTA whole blood
Preferred volume 3 mL
Min. Volume 1 mL
UCSF Rejection Criteria Do not freeze blood. Refrigerate sample if storage is required.
Ship to China Basin Molecular Diagnostics
Processing notes Do not freeze blood. Refrigerate sample if storage is required.
Ship to China Basin Molecular Diagnostics
Normal range Negative
Synonyms CALR
Stability Refrigerated 1 week
Turn around times 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 coding 81219
LDT or Mod FDA? Yes
Last Updated 6/27/2016 15:33:37
Entry Number 1626
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