Elucigene CF Italia
Elucigene CF Italia is a bolt on panel to be used in combination with CF-EU2v1. This assay identifies an additional 14 mutations commonly found in the Italian population.
For the simultaneous in vitro qualitative detection of the following mutations:
| 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 |
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
