JAK2 Exon 12 Mutation Qual.

Test ID: 

706572

CPT code:

81270

Synonyms:

Janus Kinase 2 V617F Mutation Detection Reflex JAK2 Exon 12-15 Mutation Detection

Clinical Use:

This test will assess for the JAK2V617F (exon 14) mutation first and will reflex to JAK2 exon 12 to 15 mutation analysis when the JAK2V617F mutation is negative. 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 neoplasms (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).

Specimen Type:

Whole blood, bone marrow or cell pellet

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 or green-top (sodium heparin) tube

Collection:

Submit at room temperature. Specimens should arrive in the laboratory within 48 hours of collection. Indicate date and time of collection on test request form.

Storage Instructions:

Maintain specimen at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.

Rejection Criteria

Specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material