Elucigene CF UK Panel

Since the discovery of the CFTR gene in 1989, 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 UK panel is designed to extend the coverage of Elucigene CF-EU2v1 specifically to address the most common mutations found in UK populations. The Elucigene CF UK panel identifies 11 additional mutations in total.

Elucigene CF UK Panel is a multiplexed assay comprising a single PCR. In a single reaction mix both mutant and wild type alleles are detected for eleven mutations within the CFTR gene. In the CF UK Panel assay, 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 UK 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 UK Panel alongside the Elucigene CF-EU2v1 assay.

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

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

Safety data sheet

EN

Guide to analysis

Small Insertions and Deletions Table-by Exon | Small Insertions and Deletions Table-by Peak

Analysis files

GeneMapper Files | GeneMarker Files