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:

 

TraditionalHGVS Nomenclature*
cDNA nameProtein name
CFTRdele2,3c.54-5940_273+10250del (c.54-5940_273+10250del21080)
E60Xc.178G>Tp.Glu60X
G85Ec.254G>Ap.Gly85Glu
E92Xc.274G>Tp.Glu92X
621+1G>Tc.489+1G>T
1078delTc.948del(c.948delT)p.Phe316LeufsX12
R334Wc.1000C>Tp.Arg334Trp
I336Kc.1007T>Ap.Ile336Lys
R347Pc.1040G>Cp.Arg347Pro
A455Ec.1364C>Ap.Ala455Glu
I507delc.1519_1521del (c.1519_1521delATC)p.Ile507del
F508delc.1521_1523del (c.1521_1523delCTT)p.Phe508del
1677delTAc.1545_1546del (c.1545_1546delTA)p.Tyr515X
1717-1G>Ac.1585-1G>A
G542Xc.1624G>Tp.Gly542X
G551Dc.1652G>Ap.Gly551Asp
R553Xc.1657C>Tp.Arg553X
2143delTc.2012del (c.2012delT)p.Leu671X
2183AA>Gc.2051_2052delAAinsGp.Lys684SerfsX38
2184delAc.2052del (c.2052delA)p.Lys684AsnfsX38
2184insAc.2052_2053insAp.Gln685ThrfsX4
2789+5G>Ac.2657+5G>A
3272-26A>Gc. 3140-26A>G
Y1092X(C>A)c.3276C>Ap.Tyr1092X
M1101Kc.3302T>Ap.Met1101Lys
R1162Xc.3484C>Tp.Arg1162X
3659delCc.3528del (c.3528delC)p.Lys1177SerfsX15
3849+10kbC>Tc.3717+12191C>T
3905insTc.3773_3774insTp.Leu1258PhefsX7
W1282Xc.3846G>Ap.Trp1282X
N1303Kc.3909C>Gp.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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