SETBP1 mutation
Investigation : SETBP1 mutation
Specimen type : Bone marrow or blood
Spec container : EDTA 
Volume required : 2ml of bone marrow or 10ml of blood
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.

SETBP1 encodes SET-binding protein 1, a binding partner for the multi-functional SET protein, which is involved in apoptosis, transcription, and nucleosome assembly. SETBP1 mutations were present in 24.3% of 70 patients with atypical chronic myeloid leukaemia (aCML), as well as in the closely related disorders unclassified Myelodysplasia/Myeloid Proliferative Neoplasm (MDS/MPN) (3/30, 10%) and chronic myelomonocytic leukemia (CMML; 3/82, 4%), and in one of four cases of chronic neutrophilic leukemia (CNL). Atypical CML patient with these mutations had significantly worse prognosis.

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


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