Elucigene CF UK

Elucigene CF-UK is a bolt on panel to be used in combination with CF-EU2v1. This assay identifies an additional 11 mutations commonly found in the British population.

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

 

Legacy Name HGVS Nomenclature* Intron/Exon
cDNA name Protein name Legacy Intron/Exon Intron/Exon
Q98X c.292C>T p.GIn98X Exon 4 Exon 4
L218X c.653T>A p.Leu218X Exon 6a Exon 6
1154insTC c.1022_1023insTC p.Phe342HisfsX28 Exon 7 Exon 8
1161delC c.1029delC p.Cys343X Exon 7 Exon 8
R352Q c.1055G>A p.Arg352Gln Exon 7 Exon 8
1525-1G>A c.1393-1G>A N/A Intron 9 Intron 10
Q493X c.1477C>T p.Gln493X Exon 10 Exon 11
Y569D c.1705T>G p.Tyr569Asp Exon 12 Exon 13
2184insA c.2052_2053insA p.Gln685ThrfsX4 Exon 13 Exon 14
2711delT c.2583delT p.Phe861LeufsX3 Exon 14a Exon 15
R1283M c.3848G>T p.Arg1283Met Exon 20 Exon 23

Instructions for Use

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Software Analysis Files

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Supplementary Information

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Catalogue Number

CF1UKB1

Kit name

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

Notes

1 PCR tube per sample, 11 mutations detected, Genetic Analyzer platform

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