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 Name HGVS Nomenclature* Intron/Exon
cDNA nameProtein name Protein name Legacy Intron/Exon Intron/Exon
712-1G>T c.580-1G>T Intron 5 Intron 5
H199Y c.595C>T p.His199Tyr Exon 6a Exon 6
P205S c.613C>T p.Pro205Ser Exon 6a Exon 6
V232D c.695T>A p.Val232Asp Exon 6a Exon 6
1609delCA c.1477_1478delCA p.Gln493ValfsX10 Exon 10 Exon 11
1812-1G>A c.1680-1G>A Intron 11 Intron 12
A561E c.1682C>A p.Ala561Glu Exon 12 Exon 13
2184insA c.2052_2053insA p.Gln685ThrfsX4 Exon 13 Exon 14
R709X c.2125C>T p.Arg709X Exon 13 Exon 14
K710X c.2128A>T p.Lys710X Exon 13 Exon 14
2869insG c.2737_2738insG p.Tyr913X Exon 15 Exon 17
A1006E c.3017C>A p.Ala1006Glu Exon 17a Exon 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

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