PNPLA8-CFTR Fusion FISH Probe
The PNPLA8-CFTR Fusion FISH Probe is used to confirm a fusion of the PNPLA8 and CFTR genes. The fusion of the PNPLA8 and CFTR genes has been associated with Liver Hepatocellular 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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| PNPLA8-CFTR-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-RERE | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-REOR | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-REGO | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-REGR | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-REAQ | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-ORRE | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-OROR | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-ORGO | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-ORAQ | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-GORE | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-GOOR | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-GOGO | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-GOGR | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-GOAQ | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-GRRE | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-GROR | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-GRGO | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-GRGR | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-GRAQ | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-AQRE | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-AQOR | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-AQGO | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-AQGR | 20 (40 μL) | 200 μL |
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| PNPLA8-CFTR-20-AQAQ | 20 (40 μL) | 200 μL |
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CFTR Gene Summary
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]
Gene Name: Cystic Fibrosis Transmembrane Conductance Regulator
Chromosome: CHR7: 117120016 -117308718
Locus: 7q31.2
PNPLA8 Gene Summary
This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]
Gene Name: Patatin Like Phospholipase Domain Containing 8
Chromosome: CHR7: 108112070 -108166638
Locus: 7q31.1
Gene Diseases
The PNPLA8 CFTR Fusion has been associated with the following diseases:
| Disease Name |
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| Liver Hepatocellular Carcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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