INNO-LiPA CFTR
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 CFTR19 and INNO-LiPA CFTR17+Tn Update kits are required.
Article number: 80558 (20T), 80559 (2x20T), 80560 (20T)
Analysis of 36 CFTR mutations and wild types, plus CBAVD-related Tn polymorphism
Features & Benefits
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Two strips replace multiple testing.
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The INNO-LiPA CFTR provides probes for the 36 most frequent CFTR-related mutations worldwide.
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The combination of the 2 strips also covers the panel of CFTR mutations recommended by the ACMG/ ACOG.
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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.
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The test is fast and easy to perform, offers quick visual interpretation, and full results are obtained within one working day.
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Strip design
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Publications
Background
Cystic fibrosis (CF) is one of the most frequent human genetic disorders, predominantly affecting individuals of Caucasian descent in North America and Europe. With about 1 in 25 persons carrying the autosomal recessive genetic mutation responsible for this potentially life-threatening condition, it is no surprise that the disease occurs with a frequency of 1 in every 2500-3000 live births.
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulatory (CFTR) gene, which is located on the long arm of chromosome 7. This genetic abnormality causes defective chloride transport across cell membranes, leading to the formation of thick, viscous mucus gland secretions (hence the alternative name for the disease: mucoviscidosis). These sticky secretions clog the ducts of various glands, especially those of the pancreas and lungs, giving rise to pancreatic insufficiency and repeated respiratory tract infections which, together with salty sweat, are the hallmarks of the classical presentation of the disease.
Diagnosis of CF
The telltale signs and symptoms of CF are typically observed first in neonates or young children. Early diagnosis of CF will trigger close follow-up and fast implementation of a selected treatment and nutrition program to prevent irreversible tissue damage. This is an essential factor which determines the quality of life and the life expectancy of the CF patient.
Already within 24 hours after birth, some 15% of children present with meconium ileus (intestinal obstruction). Others fail to gain weight and thrive, while a significant proportion of children develop increasingly menacing respiratory symptoms. These clinical presentations, along with the abnormal results of an immunoreactive trypsin (IRT) test, a pancreatitis associated protein (PAP) test, and/or sweat test, direct the physician towards a diagnosis. However, the definitive diagnosis of CF is made upon genetic analysis of the CFTR gene.
Other diseases, which are clinically defined as atypical CF, are also associated with CFTR mutations. Examples of these conditions are atypical asthma, bronchiectasis, pancreatitis, and male infertility caused by the congenital absence of the vas deferens (CBAVD). A molecular analysis of the CFTR gene is recommended for purposes of differential diagnosis.
Genetic testing should always be offered along with appropriate genetic counselling.
Molecular Testing for CF
By the end of 2008, over 1600 CFTR mutations and more than 300 potential functionally important polymorphisms are known, associated with a wide range of disease states. The mutations are unevenly distributed over the exons and introns of the CFTR gene.
In different populations, some mutations in the CFTR gene are much more common than others, reflecting population origin and ethnicity. The most common mutation on the CFTR gene occurs at position 508, causing a phenylalanine molecule (termed F) to be lost from the CFTR amino acid sequence: hence the designation deltaF508. This mutation leads to a non-functional, degraded mutant CFTR protein.
Genotype-phenotype correlation is not always easy to establish; genetic explanations are still being sought for different clinical manifestations in individuals with identical mutations, although the explanation may lie in an interplay of genetic, infectious, and environmental factors.
Relevant scientific articles
Rommens J M, Iannuzzi M C, Kerem B-S, Drumm M L, Melmer G, Dean M, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989;245:1059-65.
Riordan J R, Rommens J M, Kerem B-S, Alon N, Rozmahel R, Grzelczak Z, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-73. Erratum in: Science 1989;245:1437.
Kerem B-S, Rommens J M, Buchanan J A, Markiewicz D, Cox T K, Chakravarti A, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245:1073-80.
Estivill X. Complexity in a monogenic disease. Nat Genet 1996;12:348-350.
Estivill X, Bancells C, Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum Mutat 1997;10:135-54.
Bobadilla JL, Macek M Jr, Fine JP, Farrel PM, et al. Cystic Fibrosis: A worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 2002;19:575-606.
Dequeker E, Cuppens H, Dodge J, Estivill X, Goossens M, Pignatti PF, Scheffer H, Schwatrz M, Schwarz M, Tümmler B, Cassiman JJ, et al. Recommendations for quality improvement in genetic testing for cystic fibrosis. Eur J Hum Genet 2000;8 Suppl 2:S2-24.
Grody W, Cutting G, Klinger K, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001;3:149-54.
Stern R C. The diagnosis of cystic fibrosis. New Engl J Med 1997;336:487-91.
Dequeker E and Cassiman J-J. Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment. Eur J Hum Genet 1998;6:165-75.
Rohlfs EM, Zhou Z, Sugarman EA, Heim RA, Pace RG, Knowles MR, et al. The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis. Genet Med 2002;4:319-23.
Other sites that contain useful information about CF are given below:
European Thematic Network for Cystic Fibrosis
http://www.cfnetwork.be/
European Cystic Fibrosis Society (ECFS)
http://www.ecfs.eu/
The American Society of Human Genetics
http://www.ashg.org/
The European Society of Human Genetics
http://www.eshg.org/
Belgian Association for Cystic Fibrosis (only in NL and F)
http://www.muco.be/
WHO website
http://www.who.int/genomics/publications/en/
Customer support
For all inquiries regarding Innogenetics products and instrumentation, we offer the services of our customer support team. This team of technical experts is committed to dealing with
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General inquiries
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Technical assistance
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Complaint resolution
The customer support team is designed to be your principle point of contact. They will ensure that the appropriate person handles all product-related inquiries. For this service please contact us via e-mail, call us (+32-9 329 16 11), or fax (+32-9 329 17 75).