INNO-LiPA® CFTRiage
The INNO-LiPA CFTR iage 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.
This qualitative genotyping test provides information for carrier testing in adults of reproductive age, can be used as an aid in newborn screening as well as in confirmatory diagnostic testing.
The assay uses amplification reagents intended for the nucleic acid multiplex amplification of 40 regions of the CFTR gene (regions for some mutations are combined) in only one reaction.
The INNO-LiPA CFTR iage approach provides a multiparameter screening test for CFTR gene mutations and discriminates between healthy normal individuals, healthy carriers, and affected patients.
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Insights
Nov 28, 2019Early, easy, efficient and cost-effective diagnosis of Cystic Fibrosis
Cystic Fibrosis is one of the most frequent life threatening inherited diseases. If detected early, effective treatment can be started improving...
May 22, 2019Cystic Fibrosis, diagnosis and molecular testing
Cystic fibrosis (CF) is one of the most frequent human genetic disorders, predominantly affecting individuals of Caucasian descent in North America...
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FAQ
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; 1-15Is 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.
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