JAK2 Exon 12 Mutation Qual.

Test ID: 

706566

CPT code:

81403

Clinical Use:

The JAK2V617F (exon 14) mutation analysis can be used in conjunction with bone marrow histology and cytogenetic analysis to assist in the diagnosis of myeloproliferative neoplasma (MPN). The JAK2V617F mutation is found in almost all patients with polycythemia vera (PV) and in nearly one-half of those with idiopathic myelofibrosis (IMF) and with essential thrombocythemia (ET). A small percentage (~3.3%) of JAK2 mutation positive patient contain other non-V617F mutations within exons 12 to 15.

Test Information:

Indicate the specific gene and mutation to be analyzed on the test request form. Failure to indicate the gene and mutation will result in testing delays.

Specimen Type:

Whole blood or bone marrow

Requested Volume: 

3 to 5 mL whole blood or 1 to 2 mL bone marrow

Minimum Volume: 

3 mL whole blood or 1 mL bone marrow

Container Type: 

Lavender-top (EDTA) tube, green-top (sodium heparin) tube or yellow-top (ACD) tube

Collection:

At room temperature (18-26°C)

Storage Instructions:

Refrigerate

Rejection Criteria

Specimen does not meet all of the criteria for sample type, container, minimum volume, collection and storage; frozen whole blood or marrow; leaking tube; clotted blood or marrow; grossly hemolyzed or otherwise visibly degraded; contamination by another specimen; specimen containing foreign material