INNO-LiPA® CFTR 19
Analysis of 35 CFTR mutations and wild types, plus CBAVD-related Tn polymorphism
INNO-LiPA CFTR is a multiparameter line probe assay, based on the reverse hybridization principle, for the simultaneous detection and identification of 35 cystic fibrosis-related mutations and their wild-type sequences in human whole blood, dried blood spots, and buccal brush samples.
In addition, probes for the identification of the Tn polymorphism within intron 8 are included.
For the detection and identification of all 35 mutations, the INNO-LiPA CFTR 19 and INNO-LiPA CFTR 17+Tn Update kits are required.
Product number 80560
Product number 80559
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Features & Benefits
Two strips replace multiple testing.
The INNO-LiPA CFTR provides probes for the 35 most frequent CFTR-related mutations worldwide.
The combination of the 2 strips also covers the panel of CFTR mutations recommended by the ACMG/ACOG (23 mutations).
Analysis of both the mutant and the wild-type sequences demonstrates homo- or heterozygosity for each tested mutation, allowing the discrimination between carrier status and patients.
The test is fast and easy to perform, offers quick visual interpretation, and full results are obtained within one working day.
Fully automated processing of the strips is possible using Auto-LiPA™ 48 and AutoBlot 3000H.
Objective, automated reading and interpretation of the strips is possible using LiRAS® for LiPA Cystic Fibrosis.
Manual interpretation possible.
Conditions of sale
To read the end user conditions of sale for this product please visit our Resource center.
Other documentsFileFAQ - LIPA General (pdf, 137.77 kb)FileFAQ - INNO-LIPA CFTR (pdf, 157.08 kb)FileList_of_recommended_reading_publications_for_INNO-LiPA_CFTR.pdf (pdf, 183.12 kb)
Cystic Fibrosis is one of the most frequent life threatening inherited diseases. If detected early, effective treatment can be started improving...
Nov 28, 2019
How does the coronavirus disease Covid-19 impact Fujirebio's operations?
Please see the following statement on the impact of coronavirus disease Covid-19 on the operations of Fujirebio Europe (updated January 19, 2021).
Can the strips of the different CFTR products be tested together in the same trough?
The following strips can be tested in the same trough:
- INNO-LiPA CFTR17+Tn Update + INNO-LiPA CFTR19
- INNO-LiPA CFTR Italian Regional + INNO-LiPA CFTR Deletions + 6
Other strip combinations have not been validated.
What kind of Taq DNA polymerase needs to be used?
The use of a Hot Start Taq DNA polymerase is required, but not provided. Validation studies were performed with Hot Start Taq (Qiagen®), but other Hot Start enzymes can be used.
Initial denaturation temperature (95°C) and time (15 minutes) of the amplification profile included in the package insert should be verified with the Hot Start Taq DNA polymerase manufacturer instructions and potentially adjusted.
What sample types can be used in combination with the CFTR product portfolio?
Internal and external validation studies proved compatibility with whole blood, dried blood spots and buccal brushes for the complete CFTR product portfolio.
What controls are included in the INNO-LiPA CFTR kits?
Conjugate control line:
- Monitors the color development step meaning the addition and incubation of conjugate and substrate.
Wild type probes:
- For every mutant probe a corresponding wild type probe is coated on the strip. The presence of the wild type probes on the strip verifies a successful amplification.
What is reflex testing?
Some assays can cause a false positive homozygous M.F508del or FI507del result due the presence of non-CF causing variants located at codons 506, 507 and 508.
Each lab should perform additional reflex testing for these variants (ACMG guidelines).
INNO-LiPA CFTR19 provides a correct clinical interpretation of samples carrying benign variants I506V, I506M, I507V, F508C. The specificity of our assay thus eliminates the need for additional reflex testing.
More information available on “Evaluation F508del probe specificity poster 2002” and in package insert.
What is the clinical relevance of R117H?
When R117H is detected, the Tn status should also be established:
- R117H-T5 is considered a mild CF-causing complex allele
- R117H-T7 is more likely a CFTR-related disorder mutation
When found in compound heterozygosity with a CF-causing mutation, or possibly even in homozygosity, R117H-T5 generally results in pancreatic sufficient CF, while R117H-T7 may result in a mild form of CF, obstructive azoospermia, or no disease at all.
* Castellani C, Cuppens H, Macek JR M et al. J Cyst Fibros 2008; 7:179-196
Dequeker E, Stuhrmann M, Morris MA et al. Eur j Hum Genet 2008; 1-15
Is I148T a polymorphism or disease-causing CFTR mutation?
I148T, currently removed from the INNO-LiPA CFTR19 strip, was initially classified as a frequent CF-causing mutation. Recent literature describes I148T to be a neutral polymorphism not causing CF disease.*
* Castellani C, Cuppens H, Macek JR M et al. J Cyst Fibros 2008; 7:179-196.
How were the mutations selected for the INNO-LiPA CFRT17+Tn Update and INNO-LiPA CFTR19 kit?
- Based on the ACMG guidelines
- During design of kit core panel of 25 mutations for population carrier screening in the US, but currently 23 mutations are being recommended*
- Mutations with worldwide frequency > 0,1%
- Based on literature, feedback from target sales regions, labs and KOL
- Define most frequent mutations in Europe
- Define regional mutations with frequency > 1%
- Based on competition
* The availability of new data from different laboratories, has resulted in a revised recommended panel. More info can be found on the American College for Medical Genetics site, http:///www.acmg.net.
INNO-LiPA® CFTR iage
Product number 80597, 80598, 80599 -
The INNO-LiPA CFTRiage is a line probe assay, intended for the simultaneous in vitro detection and identification of 88 human Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations and their wild type sequence in human whole blood, dried blood spots or buccal brushes.CE marked
INNO-LiPA® CFTR 17+Tn Update
Product number 80558 -
Multiparameter line probe assay, based on the reverse hybridization principle, for the simultaneous detection and identification of 36 cystic fibrosis-related mutations and their wild-type sequences in human whole blood, dried blood spots, and buccal brush samples.CE marked
INNO-LiPA® CFTR Italian Regional
Product number 80710 -
Multiparameter line probe assay, based on the reverse hybridization principle, for the simultaneous detection and identification of 21 Italian cystic fibrosis-related mutations and their wild-type sequences in human whole blood, dried blood spots and buccal brush samples.CE marked
INNO-LIPA® CFTR Deletions+6
Product number 81391 -
Multiparameter line probe assay, based on the reverse hybridization principle, for the simultaneous detection and identification of 8 large rearrangements and 6 mutations and their wild-type sequences in human whole blood, dried blood spots, and buccal brush samples.CE marked
INNO-LiPA® CFTR Extra
Product number 80533 -
Line probe assay, intended for the simultaneous in vitro detection and identification of 18 human Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations and their wild type sequence in human whole blood, dried blood spots or buccal brushes.CE marked
LiRAS® for LiPA® Cystic Fibrosis
Product number 80535 -
Objective reading and interpretation of INNO-LiPA® strips for detection of CFTR mutations and wild-type.CE marked