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 ‘private’, 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

ES | PT | GB

Catalogue Number


Kit name

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


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