Cystic fibrosis testing -- next steps

April 27, 2009,

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 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 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."

More information:

Hantash FM, Rebuyon A, Peng M, Redman JB, Sun W, Strom CM: Apparent homozygosity of a novel frame shift mutation in the CFTRA gene because of a large deletion. J Mol Diagn 2009, 253-256

Pratt VM, Caggana M, Bridges C, Buller AM, DiAntonio L, Highsmith WE, Holtegaard LM, Muralidharan K, Rohlfs EM, Tarleton J, Toji L, Barker SD, Kalman LV: Development of genomic reference materials for cystic fibrosis testing. J Mol Diagn 2009, 186-193

Schwartz KM, Pike-Buchanan LL, Muralidharan K, Redman JB, Wilson JA, Jarvis M, Cura MG, Pratt VM: Identification of cystic fibrosis (CF) variants by PCR/oligonucleotide ligation (OLA) assay. J Mol Diagn 2009, 211-215

Source: American Journal of Pathology (news : web)

Related Stories

Recommended for you

Building better tiny kidneys to test drugs and help people avoid dialysis

February 16, 2018
A free online kidney atlas built by USC researchers empowers stem cell scientists everywhere to generate more human-like tiny kidneys for testing new drugs and creating renal replacement therapies.

Expanding Hepatitis C testing to all adults is cost-effective and improves outcomes

February 16, 2018
According to a new study, screening all adults for hepatitis C (HCV) is a cost-effective way to improve clinical outcomes of HCV and identify more infected people compared to current recommendations. Using a simulation model, ...

Study suggests expanded range for emerging tick-borne disease

February 16, 2018
Human cases of Borrelia miyamotoi, a tick-borne infection with some similarities to Lyme disease, were discovered in the eastern United States less than a decade ago. Now new research led by the Yale School of Public Health ...

Flu shot only 36 percent effective, making bad year worse (Update)

February 15, 2018
The flu vaccine is doing a poor job protecting older Americans and others against the bug that's causing most illnesses.

IFN-mediated immunity to influenza A virus infection influenced by RIPK3 protein

February 15, 2018
Each year, influenza kills half a million people globally with the elderly and very young most often the victims. In fact, the Centers for Disease Control and Prevention reported 37 children have died in the United States ...

A new class of drug to treat herpes simplex virus-1 infection

February 14, 2018
For patients with the herpes simplex-1 virus (HSV-1), there are just a handful of drugs available to treat the painful condition that can affect the eyes, mouth and genitals.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.