INNO-LiPA® CFTR 17+Tn Update
Analysis of 36 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 36 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 36 mutations, the INNO-LiPA CFTR 19 and INNO-LiPA CFTR 17+Tn Update kits are required.
Product number 50558
Product number 80559
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Insights
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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; 1-15How 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.
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