Elucigene CF Italia Panel

Elucigene CF Italia Panel is a multiplexed assay comprising 2 PCR reaction mixes, one for mutant and one for wild type alleles, for the detection of 14 additional mutations within the CFTR gene found to be prevalent in the Italian population. In the CF Italia Panel, mutant alleles are visualised as blue amplicon peaks and wild type alleles are visualised as green amplicon peaks. The internal amplification control markers (non-cystic fibrosis) found in CF-EU2v1 are also included in the CF Italia Panel mix. These are visualised as red amplicon peaks and are used to monitor the efficiency of sample amplification and aid patient identification when running the CF Italia Panel alongside the Elucigene CF-EU2v1 assay. CF Italia in combination with CFEU2v1, now offers a panel for the detection of 64 common Cystic Fibrosis mutations of relevance to the Italian population.

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

EN | IT | CF-ITALIA Table of insertions and deletions- by exon | CF-ITALIA Table of insertions and deletions- by peak

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

Brochure

CF Italia Flyer IT

Safety data sheet

EN

Analysis files

CF-Italia GeneMarker files | CF-ITALIA GeneMapper Files for v3.7 | CF-ITALIA GeneMapper Files for v5.0 (3130) | CF-ITALIA GeneMapper Files for v5.0 (3500)

Technical Bulletin

(LOT# CFITAB1 - 202312) |