Probes
(5p15.2-p15.31/5q32-q33.1 & 7p11.1-q11.1/7q31.2 & 8p11.1-q11.1 & 20q11.21/20q12 & 12p13.2)

Disease:
myelodysplastic neoplasm

comprehensive panel to detect cytogenetic abnormalities associated with melodysplastic disorders. The CSF1R gene is consistently lost by partial deletions occurring in chromosome 5 in patients with myelodysplastic neoplasm (MDS). Specific deletion of the CSFS1R gene has been detected in as many as 40% of MDS patients. helping determine whether there is a complete loss of chromosome 5 versus a 5q deletion (5q-) present in MDS. it is also designed to detect the MET gene region located on 7q31. MET (7q31) which is a protooncogene that encodes a transmembrane tyrosine kinase receptor, and regulates cellular pathways responsible for cell proliferation. Aberrant activation of MET (7q31) signaling occurs in some cancers. Panel can detect copy number variations of the 8p11 region on chromosome 8 and quantitative abnormalities of chromsome 8. as well as detection of deletions involving the human PTPRT gene ( Protein tyrosine phosphatase receptor type T) as well as the detection of chromosome 20q11 specific sequences. Deletion of long arm of chromosome 20 [del(20q)] is the second most frequent recurrent chromosomal abnormality in hematological malignancies In patients with myelodysplastic neoplasms (MDS), a 20q deletion [del(20q)] isis associated with a favorable prognosis in MDS. Also for detection of abnormalities involving the human ETV6 gene at 12p13.2 in by fluorescence in situ hybridization (FISH). The ETV6 gene encodes an ETS family transcriptional repressor and is frequently rearranged or fused with other genes in human leukemias of myeloid or lymphoid origins and MDS.
NGS MDS panel is recommended

Collection:
'1~2ml in Green top (Sodium Heparin) tube OR Lavender top (EDTA) tube/ 10 mL of fluid in RPMI medium, or
1 cm3 marble-sized piece of fresh tumor immersed completely with RPMI medium or sterile saline'

Stability:
120 Hours/48 hours

Unacceptable Conditions:
DO NOT FREEZE