Calreticulin Mutation Analysis with Interpretation

Label Mnemonic:	CALR
Epic code:	LAB8078
Downtime form:	Doctor/Provider Orders - Pathology Molecular

Molecular Pathology
6240 RCP
384-9568

Specimen(s):

Whole Blood

Collection Medium:

Pink top tube 6 mL (K2-EDTA)

Minimum:

Adults 3 mL whole blood. Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing. Testing requires a dedicated collection tube.

Delivery Instructions:

Room temperature for up to 24 hours, then refrigerate the whole blood if it is necessary to be held overnight, weekends or holidays.

Testing Schedule:

Weekly

Turn Around Time:

7 working days

Reference Range:

No mutations detected.

Comments:

Calreticulin (CALR) mutations can be used to help identify patients with myeloproliferative neoplasms, in particular essential thrombocythemia and primary myelofibrosis. Most of the mutations that have been described are present in ex.9. The two most common mutations are a 52 bp deletion, c.1099_1150del, and a 5 bp insertion, c.1154_1155insTTGTC. Rare missense and insertion/deletion mutations have been described.

Methodology:

PCR amplification and fragment separation by capillary electrophoresis.

CPT Code:

81219