CALR Mutation Analysis by NGS

Casandra

Casandra Test Code NG35453Version 1 (DRAFT)

Performing Lab

Lab NeoGenomicsLab Test ID N/ACPT Code 81219

CALR Mutation Analysis by NGS

Clinical Use

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

This test may be ordered separately if JAK2 analysis, specifically JAK2 V617F, is already performed. It can also be a reflex from JAK2 V617F Mutation Analysis or part of the MPN JAK2 V617F with Sequential Reflex to JAK2 Exon 12-15, CALR, and MPL.