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NIPBL-SPEF2 Fusion FISH Probe

The NIPBL-SPEF2 Fusion FISH Probe is used to confirm a fusion of the NIPBL and SPEF2 genes. The fusion of the NIPBL and SPEF2 genes has been associated with Uterine Corpus Endometrial Carcinoma, Head And Neck Squamous Cell Carcinoma , Sarcoma, Bladder Urothelial Carcinoma, Skin Cutaneous Melanoma, and Uterine Carcinosarcoma. These probes are FISH confirmed on normal peripheral blood in both interphase nuclei and metaphase spreads before shipment. Typical turnaround time for this product is 7-14 days after purchase.

** This product is for in vitro and research use only. This product is not intended for diagnostic use. Please note that both genes fall on the same chromosome and inter-chromosomal detection may be difficult to detect depending on the genes proximity to one another. Please consult our support staff before ordering this product to ensure that the probe can be designed to meet your specific needs.

Turnaround Time: 7-10 Business Days    Shipping Time: 1-2 Day Expedited Shipping

SKU Test Kits Buffer Dye Color Order Now
NIPBL-SPEF2-20-ORGR  (Standard Design) 20 (40 μL) 200 μL
NIPBL-SPEF2-20-RERE 20 (40 μL) 200 μL
NIPBL-SPEF2-20-REOR 20 (40 μL) 200 μL
NIPBL-SPEF2-20-REGO 20 (40 μL) 200 μL
NIPBL-SPEF2-20-REGR 20 (40 μL) 200 μL
NIPBL-SPEF2-20-REAQ 20 (40 μL) 200 μL
NIPBL-SPEF2-20-ORRE 20 (40 μL) 200 μL
NIPBL-SPEF2-20-OROR 20 (40 μL) 200 μL
NIPBL-SPEF2-20-ORGO 20 (40 μL) 200 μL
NIPBL-SPEF2-20-ORAQ 20 (40 μL) 200 μL
NIPBL-SPEF2-20-GORE 20 (40 μL) 200 μL
NIPBL-SPEF2-20-GOOR 20 (40 μL) 200 μL
NIPBL-SPEF2-20-GOGO 20 (40 μL) 200 μL
NIPBL-SPEF2-20-GOGR 20 (40 μL) 200 μL
NIPBL-SPEF2-20-GOAQ 20 (40 μL) 200 μL
NIPBL-SPEF2-20-GRRE 20 (40 μL) 200 μL
NIPBL-SPEF2-20-GROR 20 (40 μL) 200 μL
NIPBL-SPEF2-20-GRGO 20 (40 μL) 200 μL
NIPBL-SPEF2-20-GRGR 20 (40 μL) 200 μL
NIPBL-SPEF2-20-GRAQ 20 (40 μL) 200 μL
NIPBL-SPEF2-20-AQRE 20 (40 μL) 200 μL
NIPBL-SPEF2-20-AQOR 20 (40 μL) 200 μL
NIPBL-SPEF2-20-AQGO 20 (40 μL) 200 μL
NIPBL-SPEF2-20-AQGR 20 (40 μL) 200 μL
NIPBL-SPEF2-20-AQAQ 20 (40 μL) 200 μL

NIPBL Gene Summary

This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Gene Name: NIPBL, Cohesin Loading Factor

Chromosome: CHR5: 36876860 -37065921

Locus: 5p13.2

SPEF2 Gene Summary

The Sperm Flagellar 2 (SPEF2) gene is located on chr5 :35617988-35814713 at 5p13.2.

Gene Name: Sperm Flagellar 2

Chromosome: CHR5: 35617988 -35814713

Locus: 5p13.2

Gene Diseases

The NIPBL SPEF2 Fusion has been associated with the following diseases:

Disease Name
Uterine Corpus Endometrial Carcinoma
Head And Neck Squamous Cell Carcinoma 
Sarcoma
Bladder Urothelial Carcinoma
Skin Cutaneous Melanoma
Uterine Carcinosarcoma

FISH Probe Protocols

Protocol, Procedure, or Form Name Last Modified Download

Customer Publications

There are currently no FISH related publications for this probe.