CSF3R mutation
Investigation : CSF3R mutation
Specimen type : Bone marrow or blood
Spec container : EDTA 
Volume required : 4 ml
Turnaround : 21 days
Samples should arrive within the laboratory within 72 hours of collection.

If sample cannot be sent immediately after bleeding, keep in 4 degree fridge and send as soon as possible.

CSF3R is the receptor for colony-stimulating factor 3 and is thought to play a prominent role in the growth and differentiation of granulocytes. CSF3R mutations have been described in patients with severe congenital neutropenia, which can evolve into acute myeloid leukemia (AML). CSF3R mutations can be found in approximately 50-60% of chronic neutrophilic leukaemia (CNL) and atypical CML patients . CSF3R T618I mutation has been shown to occur exclusively in WHO-defined CNL with a mutational frequency of 83% . A patient with CNL carrying CSF3R T618I mutation may benefit from the use of JAK1/2 inhibitor ruxolitinib.

Contact HODS Molecular Biology Lab for further enquiries on Ext. 4326.


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