Elucigene CF DE Panel
In 2016 the GBA legislated that a third tier of analysis (DNA testing) will be added to the current IRT/PAP protocol for Cystic Fibrosis newborn screening. The Elucigene CF DE kit uses fluorescent ARMS (Amplification Refractory Mutation System) allele specific technology to detect the 31 mandatory mutations required for newborn screening of Cystic Fibrosis in Germany.
| Traditional | HGVS Nomenclature* | |
| cDNA name | Protein name | |
| CFTRdele2,3 | c.54-5940_273+10250del (c.54-5940_273+10250del21080) | |
| E60X | c.178G>T | p.Glu60X |
| G85E | c.254G>A | p.Gly85Glu |
| E92X | c.274G>T | p.Glu92X |
| 621+1G>T | c.489+1G>T | |
| 1078delT | c.948del(c.948delT) | p.Phe316LeufsX12 |
| R334W | c.1000C>T | p.Arg334Trp |
| I336K | c.1007T>A | p.Ile336Lys |
| R347P | c.1040G>C | p.Arg347Pro |
| A455E | c.1364C>A | p.Ala455Glu |
| I507del | c.1519_1521del (c.1519_1521delATC) | p.Ile507del |
| F508del | c.1521_1523del (c.1521_1523delCTT) | p.Phe508del |
| 1677delTA | c.1545_1546del (c.1545_1546delTA) | p.Tyr515X |
| 1717-1G>A | c.1585-1G>A | |
| G542X | c.1624G>T | p.Gly542X |
| G551D | c.1652G>A | p.Gly551Asp |
| R553X | c.1657C>T | p.Arg553X |
| 2143delT | c.2012del (c.2012delT) | p.Leu671X |
| 2183AA>G | c.2051_2052delAAinsG | p.Lys684SerfsX38 |
| 2184delA | c.2052del (c.2052delA) | p.Lys684AsnfsX38 |
| 2184insA | c.2052_2053insA | p.Gln685ThrfsX4 |
| 2789+5G>A | c.2657+5G>A | |
| 3272-26A>G | c. 3140-26A>G | |
| Y1092X(C>A) | c.3276C>A | p.Tyr1092X |
| M1101K | c.3302T>A | p.Met1101Lys |
| R1162X | c.3484C>T | p.Arg1162X |
| 3659delC | c.3528del (c.3528delC) | p.Lys1177SerfsX15 |
| 3849+10kbC>T | c.3717+12191C>T | |
| 3905insT | c.3773_3774insT | p.Leu1258PhefsX7 |
| W1282X | c.3846G>A | p.Trp1282X |
| N1303K | c.3909C>G | p.Asn1303Lys |
Instructions for use
EN | DE | CF-DE Guide to Interpretation | CF-DE Table of Small Insertions and Deletions - by Peak | CF-DE Table of Small Insertions and Deletions - by Exon |
Catalogue Number
CF1DEB2
Kit name
Kit, Eluci, CF-DE, 50T, IVD-CE
Notes
2 PCR tubes per sample, 31 mutations detected, Genetic Analyzer platform
Safety data sheet
Analysis files
CF-DE GeneMapper Files for v3.7 (3130) | CF-DE GeneMapper Files for v5.0 (3130) | CF-DE GeneMapper Files for v5 (3500)