Test Directory

JAK2 V617F mutation detection

Containers - Adult

RedCapTubeEDTAKE2.7ml.jpg
Red Cap Tube EDTA KE 2.7ml
Volume Range

​2.7ml

Additive per Container

​EDTA

Reference ranges

​Not Detected.

Laboratory Site

RIE
51 Little France Crescent
Old Dalkeith Road
Edinburgh
EH16 4SA
Telephone: 0131 536 1000

Transport arrangements

Specimens should be kept at room temperature and sent directly to the laboratory as soon as possible by first class post.

Sample storage arrangements

Specimens must NOT be frozen. If a delay in sending a specimen is unavoidable it must be refrigerated overnight.

How to request

Request form/ TRAK request.

Availability

Test not available during restricted service.

Anticipated turnaround

21 days

What happens if the result is positive or abnormal

Genetic results will not be telephoned. They can be emailed if secure addresses are verified.

Static information/disclaimer

This test is accredited to ISO 15189:2012

General additional information

The presence of the JAK2 V617F mutation is associated with myeloproliferative neoplasms, including polycythaemia vera, essential thrombocythaemia and myelofibrosis. This variant should not be present in normal individuals. See the relevant BCSH guidelines for further information.

https://b-s-h.org.uk/guidelines/guidelines/gpp-use-of-genetic-tests-to-diagnose-and-manage-patients-with-myeloproliferative-and-myeloproliferativemyelodysplastic-neoplasms-and-related-disorders/

Citrated anticoagulated venous blood or 150µl DNA may be sent instead of an EDTA specimen