Sign in →

Test Code CALR UM CALR Exon 9 Mutation Screen

Clinical System Name

CALR Exon 9 Mutation Screen

Synonyms

CALR, Essential Thrombocythemia, Myeloproliferative Neoplasm, Primary Myelofibrosis

Description

Mutations in the CALR gene have been frequently identified in JAK2-negative chronic myeloproliferative neoplasms, especially essential thrombocythemia (ET) and primary myelofibrosis (PMF).

Sample Requirements

 

Blood: 6 ml blood in LAVENDER TOP (EDTA) tubes OR

Bone Marrow: 1-2 mL BONE MARROW anticoagulated with EDTA

 

Optimal results are achieved when samples are received within: 72 hours of collection for bone marrow and peripheral blood

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Affix large Cerner labels to tubes and place in refrigerator send-outs rack.

 

Off-site collection: Send whole blood refrigerated. Optimal results are achieved when samples are received within: 72 hours of collection for bone marrow and peripheral blood

Stability

Specimen Type Temperature Time
Whole blood Room temp 48 h
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

 

STAT Performed TAT
N Accepted Mon - Fri from 0800 - 1500.  Performed as needed Results within 7 working days
 

 

Performing Laboratory

UW Hematopathology

Department

 

Department:  UW Hematopathology Laboratory, 825 Eastlake Ave E, Seattle, WA, 98195

Phone Number:  (206) 288-7060

     

Reference Range

Interpretive report is provided.

Methodology

Method: PCR DNA amplification and size fractionated capillary electrophoresis

Analytical Volume: None specified

Limitations: None specified

CPT Codes

81219             (updated 7/24/2017 by sstasi) 

Clinical Utility

The somatic insertion/deletion mutations in exon 9 of the CALR gene have been associated with several chronic myeloproliferative disorders, including essential thrombocythemia (ET) and primary myelofibrosis (PMF) and infrequently other myeloid stem cell disorders. In the studies published to date, CALR mutations have been found in approximately 20-25% of ET patients, and 30-35% of PMF patients. Less commonly, this mutation may be found in some low grade myelodysplastic syndromes and other myeloid stem cell disorders. Our testing for CALR exon 9 insertion/deletion mutations is performed by PCR using purified genomic DNA and intron-located primers that flank and amplify exon 9 of CALR.

 

Send Out Instructions

Reference Test Name: Calreticulin Exon 9 Mutation
Reference Test Number: CALR
Instructions: Send on next available shuttle to UW Hematopathology Laboratory