Elucigene CF Italia

 
Elucigene CF Italia is a bolt on panel to be used in combination with CF-EU2v1. This assay identifies an additional 14 mutations commonly found in the Italian population.

For the simultaneous in vitro qualitative detection of the following mutations:

 

Legacy NameHGVS Nomenclature*Intron/Exon
cDNA nameProtein nameLegacy Intron/ExonIntron/Exon
Q98Xc.292C>Tp.GIn98XExon 4Exon 4
L218Xc.653T>Ap.Leu218XExon 6aExon 6
1154insTCc.1022_1023insTCp.Phe342HisfsX28Exon 7Exon 8
1161delCc.1029delCp.Cys343XExon 7Exon 8
R352Qc.1055G>Ap.Arg352GlnExon 7Exon 8
1525-1G>Ac.1393-1G>AN/AIntron 9Intron 10
Q493Xc.1477C>Tp.Gln493XExon 10Exon 11
Y569Dc.1705T>Gp.Tyr569AspExon 12Exon 13
2184insAc.2052_2053insAp.Gln685ThrfsX4Exon 13Exon 14
2711delTc.2583delTp.Phe861LeufsX3Exon 14aExon 15
R1283Mc.3848G>Tp.Arg1283MetExon 20Exon 23

Instructions for Use

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Software Analysis Files

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Brochure

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Supplementary Information

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Catalogue Number

CFITAB1

Kit name

KIT, Eluci, CF Italia, 25 T, IVD-CE

Notes

2 PCR tubes per sample, 14 mutations detected, Genetic Analyzer platform

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