ARUP Develops Streamlined Huntington’s Test

ARUP Laboratories has developed a new molecular test intended to expedite diagnosis of Huntington’s disease as well as reduce its cost. ARUP’s test variant employs triple repeated primed polymerase chain reaction, or TP PCR. It allows for amplified scrutiny of the gene that carries the mutation that leads to Huntington’s when it is expanded for testing purposes. The test provided accurate results when compared to 246 prior tested samples using more traditional methods. Huntington’s, a neurodegenerative disorder, affects about 30,000 in the United States. ARUP’s testing variant, which is cataloged under CPT code 81401 for detecting cellular mutations, eliminates in most instances the use of southern blot reflex testing, CPT code 83912. “A few patients with very large [gene] expansions still require southern blot testing for accurate sizing, but most cases, even apparent homozygous samples, will not need southern blot analysis,” the Salt Lake City-based ARUP said in a statement. In addition to reducing the need for additional testing, the turnaround on a diagnosis of Huntington’s disease is reduced by nearly a week, according to Elaine Lyon, ARUP’s medical director of molecular genetics. Lyon did not project any increases in ARUP’s volume of testing for Huntington’s but did say it would lead to “a more efficient testing strategy.” She declined to disclose how many Huntington’s tests ARUP performs annually. ARUP is offering the assay as a laboratory-developed test, meaning it is publicly available to all CLIA-certified laboratories.