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
Safety data sheet
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)