“Our INNO-LiPA CFTRiage is a unique and patented approach for genetic testing of CFTR mutations. We now offer 88 disease-causing mutations and poly T testing in just one strip and with only one amplification.” said Christiaan De Wilde, CEO of Fujirebio Europe. “This will allow for easy and efficient testing, beneficial to both laboratories and patients.”
About cystic fibrosis
Cystic fibrosis 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 to 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 cystic fibrosis
The telltale signs and symptoms of cystic fibrosis are typically observed first in neonates or young children. Early diagnosis of cystic fibrosis 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 cystic fibrosis 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 cystic fibrosis is made upon genetic analysis of the CFTR gene.
Other diseases, which are clinically defined as atypical cystic fibrosis, 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.
Fujirebio is a global leader in the field of high quality in vitro diagnostics (IVD) testing. It has more than 50 years’ accumulated experience in the conception, development, production and worldwide commercialization of robust IVD products.
Founded in 1950 in Tokyo, Japan, Fujirebio has over the years concluded a number of successful acquisitions of best-in-class IVD companies. Examples include Centocor Diagnostics in 1998, CanAg Diagnostics in 2006 and Innogenetics in 2010. Today, Fujirebio’s global presence includes offices in the United States, Latin America, Europe and Asia as well as a vast international distribution network.
Fujirebio has a strong and long-lasting tradition of collaborating with experts in the worldwide clinical community in the development of high-quality routine and truly novel biomarkers that cover a variety of disease states. Its IVD product lines span the range from specialized manual and automated testing to fully automated routine clinical laboratory testing solutions.
Fujirebio is today a member of Miraca Group (Miraca Holdings Inc. listed on the Tokyo Stock Exchange – TYO: 4544) and employs more than 1.200 people in Asia, Europe and America.