To better serve our customers and their patients, we have made updates to our SOMA genomic testing, which provides next-generation sequencing of key genes implicated in segmental overgrowth, McCune Albright and related syndromes. All new orders of SOMA testing will require completion of the updated requisition. We now offer a new tests for Curry-Jones syndrome and Maffucci […]
Author: Katinka
PUBLICATION: Utility of Clinical High-Depth Next Generation Sequencing for Somatic Variant Detection in the PIK3CA Related Overgrowth Spectrum
GPS faculty recently published a paper in Clinical Genetics that describes how NGS is being used in PIK3CA related overgrowth syndromes. View all of our publications. Abstract from PubMed Next-generation sequencing (NGS) has revolutionized the approach of studying sequence variation, and has been well described in the clinical laboratory setting for the detection of constitutional alterations, […]
EVENT: David W. Smith Workshop on Malformations & Morphogenesis – Sept. 9-14 in Lake Arrowhead, CA
WashU physician, and GPS collaborator, Dr. Kathy Grange has been selected for a platform presentation at this prestigious clinical genetics meeting. One of the themes for this year’s meeting is germline and somatic mosaicism, and she will be highlighting data from our SOMA sequencing tests. For more information about the David W. Smith Workshop, please visit […]
PUBLICATION: Concurrent MPL W515L and Y591D mutations in a patient with myelofibrosis
This case report in Blood Cells, Molecules and Diseases describes a patient with myelofibrosis who was sequenced with our hematopoietic disorders gene set. Analysis revealed very rare, concurrent pathogenic mutations in MPL. View all of our publications.
EVENT: Interpretation of Rare and Inherited Disease – June 22
The Intellectual and Developmental Disabilities Research Center, is pleased to organize this symposium featuring the landscape of genetics research at Washington University. This half-day event includes presentations from a number of WU faculty experts in the field – including GPS Medical Director, Catherine Cottrell – and includes discussion around the challenges and opportunities in variant interpretation across multiple […]
EVENT: Women’s Health Event at the Muny – May, 25 2016
GPS Medical Director, Dr. Catherine Cottrell, is one of three panelists at this fantastic community event sponsored by the Siteman Cancer Center at Barnes Jewish Hospital and Washington University School of Medicine. Panelists discuss the most up-to-date recommendations for breast and cervical cancer screenings, prevention and treatment.
PRODUCT UPDATE: Congenital Neutropenia Testing Now Available
GPS is pleased to announce a new test for congenital neurtopenia that sequences 24 genes associated with this disease. For more information or to order a test, please click here.
EVENT: GPS at ACMG 2016 – March 8-12 in Tampa, FL
Several people from GPS are attending and presenting at this year’s ACMG conference. Our genetic counselor, Meagan Corliss is giving a platform presentation (22) on March 11 at 5PM entitled The Utility of NGS in the Identification of Somatic Variants in Overgrowth Related Syndromes. View her abstract. Clinical fellow, Vishwanathan Hucthagowder, has a poster presentation (311) […]
PRODUCT UPDATE: New reports for constitutional disease testing
GPS is pleased to announce that all constitutional disease testing will now feature an improved clinical report. These include all cardiac disease and renal disease tests including aHUS. The new report has been redesigned to include easy-to-understand result summaries. Pathogenic and likely pathogenic variants are clearly highlighted on the first page of the report and are […]
EVENT: Cancer Then & Now – November 10, 2015
GPS’ Jon Heusel is one of the presenters at this fantastic event about the future of cancer care. When: Tuesday, November 10, 6-8pm Where: Drury Inn & Suites Arnold, 3800 State Route 141, Arnold, MO 63010 RSVP: Register for this free event by calling 314-747-7222 or 800-600-3606. This event is sponsored by the Siteman Cancer […]