Orchid BioSciences Inc announced that the cystic fibrosis (CF) genetic screening tests Elucigene CF29 has been launched for use by CLIA-approved laboratories in the United States. Elucigene CF29 reagents use ARMS detection technology to provide a simple and accurate means of routinely testing for 29 common mutations of the CFTR gene that are associated with cystic fibrosis.

The Elucigene CF29 panel of Analyte Specific Reagents (ASRs) includes all of the 25 mutations recommended by the American College of Medical Genetics (ACMG) for cystic fibrosis screening. These reagents have been developed and manufactured under internationally recognized quality systems accredited to ISO9001, ISO13485 and EN46001. The Elucigene range of reagents employs the simple yet accurate method of ARMS allele specific amplification, an exquisite modification of the polymerase chain reaction (PCR). ARMS is a rapid and reliable method of mutation detection.

Orchid develops and manufactures a range of accurate and sensitive assays for the determination of cystic fibrosis status. This is the first ASR test to be marketed by Orchid in the U.S., and the company intends to develop and market additional ASR tests for use as genetic diagnostics in the future. Recently Orchid announced that its European subsidiary successfully registered the Elucigene CF20 kit with the regulatory authorities in France for human in-vitro diagnostic use. Orchid is also developing specific panels for cystic fibrosis screening of targeted populations in various other countries.

Cystic fibrosis is the most common fatal genetic disease affecting Caucasian populations, with an incidence of approximately 1 in 2,000 to 3,000 births. This indicates a carrier frequency of around 1 in 25 (i.e., four percent of the population). Carriers do not have any symptoms of the disease; however, two carrier parents have a 25 percent chance of having a child affected with CF and a 50 percent chance of having an unaffected child who is a carrier of the disease. CF is characterized by chronic pulmonary disease and pancreatic insufficiency, and many affected individuals succumb to the condition by the age of 30.

The large number of CFTR gene mutations associated with CF that have been identified to date and their heterogeneous distribution among different populations preclude routine testing for all mutations. However, recent advances in mutation detection now allow screening to identify CF carriers of the most prevalent mutations in selected populations. Elucigene CF29 provides a simple and accurate means of routinely testing for the U.S.-approved panel of mutations in the CFTR gene.

The ACMG together with the American College of Obstetricians and Gynecologists and the National Institutes of Health have issued guidelines for CLIA-approved laboratories to offer carrier screening of cystic fibrosis in non-Jewish Caucasians and Ashkenazi Jews. The core panel of 25 CF-causing mutations that have been selected and are recommended for CF screening in the U.S. population is included in Elucigene CF29. Additionally, Elucigene CF29 tests for several other mutations, including the deltaF508 mutation making the test highly valuable in both disease diagnosis and screening applications.

Elucigene CF29 reagents have been developed by Orchid BioSciences Europe, Ltd. specifically to meet the requirements of the Laboratory Standards and Guidelines for population-based Cystic Fibrosis Carrier Screening published recently by the ACMG. Elucigene CF29 is available as Analyte Specific Reagents in the U.S. to CLIA-approved laboratories only.

Orchid's Elucigene kits and reagents are also used by its Cellmark Diagnostics laboratories to perform genetic testing services. Cellmark was one of the world's first commercial DNA testing laboratories and pioneered the introduction of DNA testing for paternity and forensics analysis in the U.K. Established in 1987, it was awarded the Queen's Award for Technological Achievement in 1990 and was the first DNA testing laboratory in the world to be accredited to International Quality Standard ISO9002.