INNO-LIPA® CFTR Deletions+6
Reach the highest step in sensitivity
INNO-LiPA CFTR is a 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.
For the detection and identification of all ACMG mutations the INNO-LiPA CFTR 19 and INNO-LiPA CFTR 17+Tn Update kits are both required to be tested (testing for 35 mutations, one polymorphism and three Tn variants).
Well-defined study cohorts prove that large rearrangements in the CFTR gene account for 16-26% of unidentified CF alleles in various populations.
Large rearrangements, of which large deletions are the most common type, have a high clinical relevance as they will always lead to a severe form of the disease in presence of another CF causing mutation.
This strip contains mutations that have a significant frequency in Italy, Bulgaria, Turkey and Hispanic Countries.
Product number 81391
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FileFAQ - 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)Get access to this section and more
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FAQ
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 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 -
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