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Paediatric Laboratory Medicine

Detection of JAK2 V617F mutation

Clinical Significance

The a V617F mutation of the JAK2  (Janus Kinase 2) gene is associated with myeloproliferative disorders.

Test Name

Detection of JAK2 V617F mutation

Gene Name

  • JAK2

Division

Haematopathology- Molecular Haematology

Method

RT PCR (Real-time polymerase chain reaction), with allele specific probe.

External Proficiency Testing

CAP

Turn Around Time

10 working days

Disease/Condition

Myeloproliferative Disorders

Specimen Type

Peripheral Blood, Bone Marrow Aspirate

Minimum Specimen Requirements

2 mL

Storage/Transportation

Room Temperature (on ice if shipping takes more than 48 hrs)

Special Requirements

Peripheral Blood and Bone Marrow aspirate in EDTA or Sodium citrate

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212