Novel Method Simplifies Testing for Huntington Disease

ARUP says new, highly sensitive and specific assay is a clear choice for clinicians.

Feb 27, 2013, 09:00 ET from ARUP Laboratories

SALT LAKE CITY, Feb. 27, 2013 /PRNewswire/ -- ARUP Laboratories, a national medical reference laboratory, now offers a new test method that will help facilitate both diagnosis and prediction for Huntington disease (HD). The novel method is highly-sensitive and specific and yields accurate results while reducing unnecessary additional testing. The test uses triplet repeat primed (TP PCR) and was completely concordant with standard genotyping methods when analyzed against 246 samples. 


Huntington disease is a neurodegenerative disorder of the central nervous system that causes progressive cognitive, motor, and psychiatric disturbances typically beginning at 35-44 years of age. Everyone is born with an HD gene, but those affected by the disease carry a defective copy which displays an abnormal number of tandem repeats of the CAG nucleotide sequence. The number of repeats correlates with the likelihood of having or developing symptoms, so accurately determining the correct number of repeats is particularly important.

Previous methods amplified the expansion area of the gene, but very large expansions could be missed. The TP PCR amplification method amplifies within the expansion, enabling rapid identification of large pathogenic CAG repeats that otherwise may only be detected with a follow-up Southern blot test. A few patients with very large expansions still require Southern blot testing for accurate sizing, but most cases, even apparent homozygous samples, will not need Southern blot analysis.  

"By using TP PRC we're able to reduce the need for Southern blot." said Elaine Lyon, PhD, medical director of Molecular Genetics at ARUP Laboratories, "This not only reduces costs, but generates accurate results in less time."

Approximately 30,000 Americans have HD. Those carrying the gene mutation will develop symptoms at some point in their lives. Affected individuals have a 50 percent chance of passing the gene to their children.

For more information about ARUP Laboratories or the  Huntington Disease (HD) Mutation with Reflex to Southern Blot: 0040018 visit or follow us on Facebook and Twitter.

Read more about this test on the National Center for Biotechnology Information, U.S. National Library of Medicine

Founded in 1984, ARUP Laboratories is a leading national reference laboratory and a nonprofit enterprise of the University of Utah and its Department of Pathology. ARUP offers more than 3,000 tests and test combinations, ranging from routine screening tests to esoteric molecular and genetic assays. ARUP serves clients across the United States, including many of the nation's top university teaching hospitals and children's hospitals, as well as multihospital groups, major commercial laboratories, group purchasing organizations, military and other government facilities, and major clinics. In addition, ARUP is a worldwide leader in innovative laboratory research and development, led by the efforts of the ARUP Institute for Clinical and Experimental Pathology®.


Vanna Livaditis
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SOURCE ARUP Laboratories