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PreventionGenetics Expands Whole Exome Sequencing Test, PGxome®

PreventionGenetics Expands Whole Exome Sequencing Test, PGxome®

PR Newswire

MARSHFIELD, Wis., Jan. 3, 2019

MARSHFIELD, Wis., Jan. 3, 2019 /PRNewswire/ -- PreventionGenetics is excited to announce the addition of Patient Plus for PGxome diagnostic. Patient Plus involves sequencing and copy number variant (CNV) analysis of the patient, and then targeted testing for the key sequence variants found in the patient in the parental specimens. This approach permits detection of de novo variants and phasing of variants in recessive genes.

PGxome diagnostic is ideal for individuals with unresolved genetic testing, disorders with significant genetic heterogeneity, global developmental delay/intellectual disability, or dysmorphic features, multiple congenital anomalies, or birth defects. Approximately 20-40% of patients will receive a diagnosis or suspected diagnosis from whole exome sequencing (WES), with higher rates being reported from trio analysis (i.e. patient and parents) compared to patient-only analysis (Atwal et al. 2014; Iglesias et al. 2014; Farwell et al. 2015).

"While we recommend trios, doing a full trio is sometimes cost prohibitive," stated James Weber, PhD, Founder and President of PreventionGenetics. "With this new option, we aim to increase diagnostic yield from patient-only analysis in situations where full trio sequencing is not feasible."

In addition to the introduction of Patient Plus, PreventionGenetics has revised the pricing structure for all PGxome diagnostic tests, resulting in significant cost savings. More details are available on PreventionGenetics' website. Patient Plus is also available for large exome-based panels including PreventionGenetics' autism spectrum disorders and intellectual disability panel, and neonatal crisis panel.

About PreventionGenetics

Founded in 2004 and located in Marshfield, Wisconsin, PreventionGenetics is a CLIA and ISO 15189:2012 accredited laboratory, providing high quality clinical genetic testing to people around the world.

PreventionGenetics provides tests for nearly all clinically relevant genes. These tests include our powerful and comprehensive whole exome sequencing test, PGxome®. We rapidly expand and update our test menu, introduce new technologies and increase the efficiencies of our processes. In the changing landscape of genetic testing, our commitment to test quality and to clinicians and patients remains paramount.

PreventionGenetics also offers DNA Banking (PGDNABank), a long-term storage of a person's DNA. DNA Banking is available direct-to-consumer. We invite you to visit our DNA Banking website.

Rachel Reed
715-387-0484 ext. 169


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Last Updated: 03-Jan-2019