Calreticulin Mutation Analysis with Interpretation
Label Mnemonic: CALR
Epic Lab Code: LAB8078
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
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, or 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