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:

 

Mutation

cDNA name

Protein name

Exon (HGVS)

Legacy Exon

G178R

c.532G>A

p.GIn98X

5

5

711+5G>A

c.579_5G>A

p.Leu218X

Intron 5

Intron 5

852del22

c.720_741del

p.Phe342HisfsX28

6

6a

R352Q

c.1055G>A

p.Cys343X

8

7

Q552X

c.1654C>T

p.Arg352Gln

12

11

D579G

c.1736A>G

p.Asp579Gly

13

12

E585X

c.1753G>T

p.Glu585X

13

12

R1066H

c.3197G>A

p.Arg1066His

20

17b

L1077P

c.3230T>C

p.Leu1077Pro

20

17b

G1244E

c.3731G>A

p.Gly1244Glu

23

20

4016insT

c.3884_3885insT

p.Ser1297PhefsX5

24

21

4382delA

c.4251delA

p.Glu1418ArgfsX14

27

24

CFTRdele 22,23

c.3964-78_4242+577del

N/A

25-26

22-23

CFTRdele 22,24

c.3964-3890_c.4443+3143del9454ins5

N/A

 

25-27

22-24

Instructions for Use

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Software Analysis Files

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Brochure

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Supplementary Information

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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