SF3B1
Unique Identifier:
ML-H028
Name on Requisition:
SF3B1
Product Line:
HEME
Panel Group:
NGS
Methodology
Molecular
NGS
Test Description and clinical significance
Genes
SF3B1
Disease:
myelodysplastic syndromes (MDS), chronic lymphocytic leukemia (CLL) and other hematologic malignancies.
SF3B1 encodes a core component of the spliceosome, essential for RNA splicing. Recurrent mutations in SF3B1, particularly at codon K700 and other hotspots, are strongly associated with myelodysplastic syndromes (MDS), especially those with ring sideroblasts, as well as in chronic lymphocytic leukemia (CLL) and other hematologic malignancies. Detection of SF3B1 mutations provides diagnostic and prognostic information and may help guide risk stratification and therapeutic decisions. This assay identifies clinically relevant hotspot mutations in SF3B1.
Specimen Requirements
Preparation:
PB, BM
Collection:
At least 0.5 ml EDTA, citrate (ACD) or Heparinized whole blood or bone marrow aspirates for DNA mutations
Stability:
96hours/4 to 7 days refrigerated
Unacceptable Conditions:
Specimen submitted is in the incorrect fixative or anticoagulant. Specimen received after the stability date. Gross hemolysis. Frozen specimen. Insufficient specimen. Unlabeled. Left un-refrigerated for an extended period.
Storage & Transport
Blood or bone marrow specimens should be kept at room temperature and preferably received within 96 hrs of drawing. Samples that are 4 to 7 days old should be refrigerated. Sufficient quantity of previously extracted DNA is acceptable if stored at appropriate temperature (short term at 2–8oC or long term at -15 to -25 oC) and should be transported on ice.
CPT(s)
81347
New York Approved
Yes
TAT
5
Requisition Type
Heme
Levels of Service
Full
DexS Code
NONE
Prefix
MI
*The CPT codes provided are for informational purposes only and are based on AMA guidelines The billing party is solely responsible for correct CPT coding.
