Elucigene CF Iberian Panel
Since the discovery of the CFTR gene in 1989 (5), more than 1700 mutations and variants in the gene have been described. Many of these mutations are âprivateâ, having been described only in one patient and/or family. Routine testing for all possible mutations is neither feasible nor cost effective and is therefore confined to testing for the most common mutations. The Elucigene CF Iberian panel is designed to extend the coverage of Elucigene CF-EU2v1 specifically to address the most common mutations found in Spanish and Portuguese populations. The Elucigene CF Iberian panel identifies 12 additional mutations in total. The Elucigene CF Iberian Panel can distinguish between individuals who are heterozygous and homozygous for the all mutations and variants in the table below.
| 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
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
Safety data sheet
Guide to analysis
Insertions and Deletions by Exon No. | Insertions and Deletions by Peak No.
Analysis files
CF Iberian GeneMapper Files | CF Iberian Panel GeneMarker Files