Elucigene CF-DE

 

Elucigene CF-DE was developed exclusively for the German population. This assay detects the 31 mandatory mutations, outlined by the Gemeinsame Bundesausschuss in 2016, for neonatal screening of Cystic Fibrosis in Germany.

For the simultaneous in vitro qualitative detection of the following mutations:

 

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

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Supplementary Information

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Catalogue Number

CF1DEB2

Kit name

Kit, Eluci, CF-DE, 50T, IVD-CE

Notes

2 PCR tubes per sample, 31 mutations detected, Genetic Analyzer platform

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