Jak2 Exon 12
 
 

Jak2 Exon 12

Jak2 Exon 12

Order name:
Jak2 Exon 12

Specimen Requirements:
Peripheral blood or bone marrow

Minimum volume:
0.5mL

Storage and stability information:
Refrigerated, one week

Test performed:
Once per week

Methodology:
Sequencing

Reference Range:
No Jak2 Exon 12 Mutations detected

CPT code:
81403

Clinical significance:
The Jak2 V617F mutation is the most common mutation present in several of the myeloproliferative neoplasms: 96% of patients with Polycythemia vera (PV); 33-57% of patients with Essential thrombocythemia (ET); 35-50% of patients with Primary myelofibrosis (PMF).

In 2007, mutations discovered in exon 12 of the Jak2 gene were reported in PV patients lacking the Jak2 V617F mutation. Therefore, almost all cases of PV have either the exon 14 V617F mutation or an exon 12 mutation. At least 27 different exon 12 mutations have been reported in PV and include substitutions, deletions and insertions. This test sequences the entire length of exon 12 of the Jak2 gene.