Calreticulin Mutation Analysis with Interpretation
Label Mnemonic: | CALRBM |
Epic code: | LAB8077 |
Order form: | Comprehensive Hematopathology Requisition |
Supply order: | Supply Order Form |
Billing: | Billing Policies |
CPT code: | 81219 |
Specimen(s):
Bone Marrow Aspirate
Collection Medium:
Pink top tube 6 mL (K2-EDTA) |
Minimum:
Adults 3 mL bone marrow aspirate. Testing on smaller volumes than
those requested will be attempted. However, in some cases, small bone marrow volumes may compromise the ability to perform testing. Testing
requires a dedicated collection tube.
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. The bulk 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, though rare missense and insertion/deletion
mutations have been described.
Methodology:
PCR amplification and fragment separation by capillary electrophoresis.
Sample
Processing:
Label transport tube with two patient identifiers, date and time of collection.
Patient's age and sex is required on requisition for processing.
Relevant clinical information must be submitted with specimen in order to provide correct interpretation of test results.
Do Not Centrifuge.
Patient's age and sex is required on requisition for processing.
Relevant clinical information must be submitted with specimen in order to provide correct interpretation of test results.
Do Not Centrifuge.
Sample
Storage:
Room temperature for up to 24 hours, then refrigerate the bone marrow if it is necessary to be held overnight, or weekends, or holidays.
Transport
Instructions:
Place requisition into outside pocket of bag.
Ship refrigerated.
Ship refrigerated.
CPT Code:
81219