Navigation Links
Cystic fibrosis testing -- next steps
Date:4/27/2009

San Juan Capistrano, CA and Chantilly, VA Three reports describing advances in cystic fibrosis genetic testing appear in the May 2009 issue of The Journal of Molecular Diagnostics.

Cystic fibrosis is a hereditary disease that affects mucus secretions in the lungs, liver, pancreas, and intestines. Approximately 1 in 4000 children born in the United States is affected with cystic fibrosis. Cystic fibrosis is an autosomal recessive disease caused by mutations in the CFTR gene; cystic fibrosis patients must inherit a mutated gene from each parent.

Genetic screening for cystic fibrosis carrier mutations (one copy of a mutated gene) is universally recommended for the reproductive-age population. Current professional guidelines call for screening a panel of 23 common mutations in CFTR; however, many laboratories screen for an expanded panel of mutations. In the May 2009 issue of The Journal of Molecular Diagnostics, three articles describe improvements in cystic fibrosis genetic screening. In one article, Pratt et al describes a project coordinated by the Centers for Disease Control and Prevention's Genetic Testing Reference Material (GeT-RM) Program to develop a set of reference materials for the expanded cystic fibrosis panel of mutations. The public availability of these materials will help to ensure the accuracy of cystic fibrosis genetic testing. The reports by Schwartz et al and Hantash et al identify mutations that may lead to false screening results, either due to a large deletion in CFTR or because of mutations that interfere with laboratory screening methods.

Wayne Grody, of the UCLA School of Medicine, Los Angeles, CA, who is not affiliated with these studies, states "Taken together, these three papers demonstrate how the widespread and thoughtful experience with [cystic fibrosis] mutation testing and screening continues to reveal new insights about the mutational alleles of the CFTR gene and further refinements in how best to detect them and assure appropriate quality control while doing so."


'/>"/>

Contact: Angela Colmone
acolmone@asip.org
310-634-7953
American Journal of Pathology
Source:Eurekalert

Related biology news :

1. Two-pronged model could help foil tough cystic fibrosis infections
2. Nanoemulsion potent against superbugs that kill cystic fibrosis patients
3. New test promises quicker, more accurate evaluation for cystic fibrosis patients
4. New approach to treating cystic fibrosis lung infection shows promise
5. PTC124 shows activity in cystic fibrosis; Phase 2 proof-of-concept data published in Lancet
6. Computer simulations point to key molecular basis of cystic fibrosis
7. Study uncovers clues to cystic fibrosis gene dysfunction and gastrointestinal disease
8. Cystic fibrosis proteins photographed interacting
9. CU-Boulder technology used to identify unexpected bacteria in cystic fibrosis patients
10. Galapagos and Cystic Fibrosis Foundation Therapeutics announce drug discovery collaboration
11. Cystic fibrosis patients may breathe easier, thanks to bioengineered antimicrobials
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/13/2017)... MONICA, Calif. , April 13, 2017 ... New York will feature emerging and evolving ... Summits. Both Innovation Summits will run alongside the expo ... of speaker sessions, panels and demonstrations focused on trending ... coast,s largest advanced design and manufacturing event will take ...
(Date:4/11/2017)... 2017 NXT-ID, Inc. (NASDAQ:   NXTD ... the appointment of independent Directors Mr. Robin D. Richards ... of Directors, furthering the company,s corporate governance and expertise. ... Gino Pereira , Chief ... to their guidance and benefiting from their considerable expertise as ...
(Date:4/4/2017)... YORK , April 4, 2017   EyeLock ... today announced that the United States Patent and Trademark ... patent broadly covers the linking of an iris image ... same transaction) and represents the company,s 45 th ... latest patent is very timely given the multi-modal biometric ...
Breaking Biology News(10 mins):
(Date:4/28/2017)... ... April 28, 2017 , ... ... has validated a 0.2 ng/mL lower limit (LLOQ) assay for nicotine and two ... LLOQ assay, the ultra-low trace nicotine assay meets additional needs of tobacco industry ...
(Date:4/27/2017)... ... 2017 , ... Oncolinx, a spin-out of the Center for ... taken their cancer research out of this world. On April 22, 2017, an ... the International Space Station’s (ISS) U.S. National Laboratory, managed by the Center for ...
(Date:4/27/2017)... ... , ... Mitotech S.A, a Luxembourg based clinical stage biotechnology company, announced positive ... a rare devastating genetic disease that leads to a sudden and rapid loss of ... patients carrying 11778, 14484 and 3460 mutations and having experienced the onset of symptoms ...
(Date:4/27/2017)... ... April 27, 2017 , ... Arrowhead ... ( http://www.paintherapeuticsummit.com ) is coming to San Diego, CA on September 27-28, 2017. ... learn about the latest advances in the treatment of various types of pain. ...
Breaking Biology Technology: