Elucigene CF Iberian

 

Elucigene CF Iberian is a bolt on panel to be used in combination with CF-EU2v1. This assay identifies an additional 12 mutations commonly found in the Spanish and Portuguese populations.

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

 

Legacy NameHGVS Nomenclature*Intron/Exon
cDNA nameProtein nameProtein nameLegacy Intron/ExonIntron/Exon
712-1G>Tc.580-1G>TIntron 5Intron 5
H199Yc.595C>Tp.His199TyrExon 6aExon 6
P205Sc.613C>Tp.Pro205SerExon 6aExon 6
V232Dc.695T>Ap.Val232AspExon 6aExon 6
1609delCAc.1477_1478delCAp.Gln493ValfsX10Exon 10Exon 11
1812-1G>Ac.1680-1G>AIntron 11Intron 12
A561Ec.1682C>Ap.Ala561GluExon 12Exon 13
2184insAc.2052_2053insAp.Gln685ThrfsX4Exon 13Exon 14
R709Xc.2125C>Tp.Arg709XExon 13Exon 14
K710Xc.2128A>Tp.Lys710XExon 13Exon 14
2869insGc.2737_2738insGp.Tyr913XExon 15Exon 17
A1006Ec.3017C>Ap.Ala1006GluExon 17aExon 19

Instructions for Use

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Software Analysis Files

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Supplementary Information

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Catalogue Number

CFIBNB1

Kit name

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

Notes

1 PCR tube per sample, 12 mutations detected, Genetic Analyzer platform