
Visit ARUP at booth #1275 to connect with our genetic counselors, learn about ARUP’s latest genetics research, and find out how we support providers in improving patient care.
ARUP Laboratories’ experts will present their latest groundbreaking research and more at the National Society of Genetic Counselors (NSGC) Annual Conference, which will be held November 10–14 in Baltimore.
ARUP researchers have conducted a large-scale study to better understand the value of atypical findings in prenatal cell-free DNA (cfDNA) screening results by investigating the connection between atypical cfDNA screening findings and results from follow-up diagnostic testing.
The study, “Why Atypical Findings Matter: Follow Up Testing Finds Diagnostic Results Related to cfDNA Screen,” by authors Rebekah Whitham, BS, MA; Hanna S. Anderson, MS, LCGC; Danielle LaGrave, MS, LCGC; Lauren Wallace, MS, LCGC; and Katie Rudd, PhD, FACMG, was published in Genetics in Medicine, an official journal of the American College of Medical Genetics and Genomics (ACMG).
Rudd and her colleagues analyzed over 10 years of data and more than 200 cases with atypical cfDNA findings and follow-up prenatal, postnatal, or maternal testing. The study found that 50% of atypical cfDNA cases had at least one abnormal result identified by follow-up diagnostic testing.
The findings indicate there is value in reporting and investigating atypical cfDNA results, Rudd said.
NSGC attendees will be able to connect with ARUP’s genetic counselors and learn more about this study by visiting booth #1275.
ARUP will also have valuable educational resources available at its booth, including a white paper that reviews the clinical evidence in support of using whole genome sequencing (WGS).
Comprehensive genetic sequencing continues to gain rapid ground as a diagnostic testing strategy. Diagnostic success rates have led to recommendations for WGS as a first-tier diagnostic test, increased coverage by third-party payors, and decreased time to diagnosis. The white paper provides a robust overview of clinical applications for clinicians who want to incorporate genomic sequencing in their practice.
ARUP offers whole and rapid genome sequencing with competitive turnaround times, providing accurate answers to patients faster.
Learn more about ARUP’s genome sequencing assays:
- Diagnosing Critically Ill Newborns: The Evolution of Testing and the Promise of Rapid Whole Genome Sequencing
- New Variant Classes Added to ARUP’s Whole Genome Sequencing Assays Expand Diagnostic Capabilities
Kellie Carrigan, kellie.carrigan@aruplab.com
















