Eurofins Biomnis code

JAK2

Synonyms

• Janus kinase 2 - mutation V617F - c.1849G>T

Specialty

Genetics

Clinical significance

JAK2 is a regulating protein present in myeloid precursor cells. The mutation V617F that effects the JH2 domain or pseudo kinase of JAK2, causes a permanent activation of the signalling pathway for erythropoietin and thrombopoietin without these growth factors being receptor bound. Causing an unprepared myeloproliferation.This JAK2 mutation is indicative in the diagnosis of Vaques disease, Essential Thrombocytosis and Idiopathic Myelofibrosis.

Preanalytics

• 5 mL :
• Whole blood EDTA, avoid tubes containing beads.
•   Ambient temperature

• A tube specifically for this analysis : No

Further information

Sample must be refrigerated if transport is > 48 hours
Use the specific request form B8-INTGB: Malignant blood disorders
Avoid sampling on Fridays and the eve of public holidays
.
ALWAYS attach the last blood/platelet count results.

Documents to download

• Specific request form B8-INTGB
• Panel form (DS69-INTGB-MPN)
• Information aimed at healthcare professionals(DS2-INTGB)

Methodology

Real-time PCR

Turnaround time

10 days