HEXA-BBS4 Fusion FISH Probe
The HEXA-BBS4 Fusion FISH Probe is used to confirm a fusion of the HEXA and BBS4 genes. The fusion of the HEXA and BBS4 genes has been associated with Lung Squamous Cell Carcinoma. 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.
| SKU | Test Kits | Buffer | Dye Color | Order Now |
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| HEXA-BBS4-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-RERE | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-REOR | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-REGO | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-REGR | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-REAQ | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-ORRE | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-OROR | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-ORGO | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-ORAQ | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-GORE | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-GOOR | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-GOGO | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-GOGR | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-GOAQ | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-GRRE | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-GROR | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-GRGO | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-GRGR | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-GRAQ | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-AQRE | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-AQOR | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-AQGO | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-AQGR | 20 (40 μL) | 200 μL |
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| HEXA-BBS4-20-AQAQ | 20 (40 μL) | 200 μL |
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BBS4 Gene Summary
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Gene Name: Bardet-Biedl Syndrome 4
Chromosome: CHR15: 72978525 -73030817
Locus: 15q24.1
HEXA Gene Summary
This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Gene Name: Hexosaminidase Subunit Alpha
Chromosome: CHR15: 72635777 -72668520
Locus: 15q23
Gene Diseases
The HEXA BBS4 Fusion has been associated with the following diseases:
| Disease Name |
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| Lung Squamous Cell Carcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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