Genes
SF3B1 (exons 13-19)

Disease:
Myelodysplastic neoplasm, sideroblastic anemia, chronic lymphocytic leukemia (CLL), Acute myeloid leukemia (AML), and chronic myelomonocytic leukemia (CMML), breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, and bladder urothelial carcinoma

Splicing Factor 3b Subunit 1: This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP)
Next generation sequencing of gene panel. SF3B1 mutations have been described in several myeloid malignancies, predominantly myelodysplastic neoplasms (MDS), as well as other hematologic malignancies, breast cancer, and uveal melanoma (UM). SF3B1 is one of several genes involved in RNA splicing that has been identified as recurrently mutated in MDS and other malignanices. MDS patients with SF3B1 mutations have been reported to have better overall and event-free survival than their wildtype counterparts. Additionally, these mutations are highly associated with subtypes of MDS characterized by ringed sideroblasts (refractory anemia with ringed sideroblasts and refractory cytopenia with multilineage dysplasia and ring sideroblasts).

Collection:
Specimen should contain atleast 0.5 mL of EDTA, citrate (ACD) or Heparinized bone marrow and peripheral blood specimens

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.