CALR Mutation Analysis by NGS
Use
Somatic insertions or deletions in exon 9 of the CALR gene are detected in 25-35% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). The most common CALR mutations observed include a 52bp deletion (type 1) or 5bp insertion (type 2). PMF patients with mutated CALR have a lower risk of thrombosis and longer overall survival than patients with JAK2 and MPL mutation, however, the association may be limited to those with type 1 or type 1-like mutation.
Special Instructions
Not provided.
Limitations
NY samples are still processed by fragment analysis/bi-directional sequencing until further notice.
Methodology
NGS (Targeted)
Biomarkers
CALR
Gene
Result Turnaround Time
7 days
Related Documents
For more information, please review the documents below
Specimen
Bone Marrow
Volume
1-2 mL
Minimum Volume
Not provided
Container
EDTA tube. Sodium Heparin is acceptable.
Storage Instructions
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | Refrigerate before shipping and ship same day as drawn whenever possible. |
| Frozen | Do not freeze. |