Elucigene™ CF-EU1 has been specifically developed and approved for in vitro diagnostic testing within Europe. Elucigene CF-EU1 identifies 32 of the most frequently observed CFTR gene mutations within populations of European origin.
Intron 8 poly T variants
The polymorphic thymidine tract at the junction of intron 8 and exon 9 of the CFTR gene influences transcription. It is well known that the number of thymidine residues (5T,7T or 9T) affects splicing efficiency of exon 9, if the 5T allele is present a proportion of exon 9 transcripts will be absent resulting in non-functional protein and variable CF symptoms. It is also reported that the number of TG repeats upstream of the polythymidine tract can aslo affect splicing of exon 9. If present on the same allele as the 5T variant the longer the number TG repeats the higher the proportion of CFTR transcripts will lack exon 9. The ability to identify the number of TG repeats in addition to poly T status can provide further valuable information to assist clinical magement of the patient. Both poly T status and the number of TG repeats can be determined using Elucigene CF-EU1.
Key Benefits of using Elucigene CF-EU1
- Developed specifically for testing European populations
- The only commercially available product that quantifies intron 8 TG repeat variance
- Poly T analysis can be switched on or off as required
- Detects wildtype and mutant alleles (i.e. full genotyping)
- Validated for use on Applied Biosystems’3100/3130 Genetic Analyzers
- Results can be analysed using GeneMapper® or GeneScan®/Genotyper® software
- Customised GeneMarker® software available for simple patient analysis and reporting
CE Marked
Elucigene CF-EU1 complies with the EC Directive 98/79/CE, carries the CE mark and is manufactured within quality systems accredited to ISO9001:2000 and ISO13485. Full technical support is provided to purchasers of kits to ensure acceptable performance and customer satisfaction.
Elucigene CF-EU1 is not available for sale in the United States
Mutations & Polymorphisms detected
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Mutations detected
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CFTRdele 2,3
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I507del
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3120+1G>A
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E60X
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F508del
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M1101K
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P67L
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1717-1G>A
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D1152H
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G85E
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G542X
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R1162X
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R117H
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S549R T>G |
3659delC
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621+1G>T
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G551D
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3849+10kbC>T
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711+1G>T
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R553X
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S1251N
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1078delT
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R560T
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3905insT
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R334W
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1898+1G>A
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W1282X
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R347P
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2184delA
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N1303K
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| A455E |
2789+5G>A
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Polymorphisms detected
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IVS8-5T (inc. TGn)
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IVS8-7T
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IVS8-9T
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• How to Order • Cat. No. CF1EUB2
For more details on Elucigene CF-EU1 please go to the downloads section.
