On The Spot e-News
Volume 3, Issue 11 | November 2008
In this issue:
- Signature at ASHG
- Signature’ Enhanced Microarray for Prenatal Diagnosis
- Genoglyphix Program for Full-Service Clients
- Signature’s New Laboratory Director
Visit Signature at the American Society of Human Genetics Annual Meeting
Signature Genomic Laboratories will be at the American Society of Human Genetics (ASHG) Annual Meeting, Nov. 11-15th, Philadelphia, Pennsylvania. Stop by our booth or attend a platform presentation to meet members of the Signature team and learn more about the power of Signature microarrays.
- Exhibitor Booths 421, 423, 425, 427
- Poster Presentation: Building, mining, and managing array CGH databases define a new paradigm for the identification of clinically significant cytogenetic aberrations (program #1092). Wednesday, Nov. 12th 4:30-6:30pm, Exhibit Hall C.
- Poster Presentation: Array CGH detects tetrasomy 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy (program #1111). Wednesday, Nov. 12th 4:30-6:30pm, Exhibit Hall C.
- Platform Presentation: Identification of cytogenetic abnormalities in prenatal specimens by high-resolution microarray (program #40). Thursday, Nov. 13th 8:45-9:00am, Room 103.
Signature Releases Enhanced Microarray for Prenatal Diagnosis
Signature has released an enhanced microarray for the prenatal detection of chromosome abnormalities.
The first tier of Signature’s Prenatal Service, the enhanced PrenatalChip® targets over 100 discrete chromosomal regions, the gain or loss of which results in a genetic disorder, while minimizing coverage of regions of unknown clinical significance. Signature’s whole-genome microarray, the SignatureChipWG, can be ordered if more coverage is required—especially in cases with abnormal findings by ultrasound.
"Pregnancy can be a time of great anxiety, particularly if a genetic disorder is suspected," said Justine Coppinger, Certified Genetic Counselor at Signature. "We approach prenatal diagnosis responsibly, balancing timely, comprehensive diagnoses with the desire to minimize anxiety over unclear results. We encourage physicians to discuss the most appropriate test for their patients with our certified genetic counselors."
Please please our booths at ASHG to talk with one of our genetic counselors and learn more about our expanded service.
Signature Makes Genoglyphix Microarray Visualization Program Available to Full-Service Clients
Signature has made its Genoglyphix® microarray visualization software available to its full-service clients.
Previously available only to laboratories that analyze microarray results using Signature research-use-only microarrays in-house, the HIPAA-compliant Genoglyphix service allows users to visualize microarray test results for their patients over a secure online server. For each patient, the Genoglyphix Genome Browser shows the syndromes and genes in the affected region, and links to the RefSeq, Online Mendelian Inheritance in Man (OMIM), and PubMed databases provide access to the latest research available online. Through the browser, users can also access the Database of Genomic Variants to identify common copy number variants.
"One of our primary objectives is to provide medical professionals with the greatest amount of useful information for the medical management of their patients," said Bassem Bejjani, M.D., Chief Medical Officer at Signature. "Microarrays give us an unprecedented amount of information; the Genoglyphix service allows our clients to access and analyze that information in a user-friendly setting."
Please visit our Genoglyphix booth (#421) at ASHG to get a demonstration of our Genoglyphix software.
Signature Announces Appointment of New Laboratory Director
Signature has appointed Allen Lamb, Ph.D., as a Laboratory Director.
Prior to joining Signature, Dr. Lamb was a Medical Director in the Cytogenetics Laboratory at University of Utah’s ARUP Laboratories and an associate professor of clinical pathology in the Department of Pathology at the University of Utah School of Medicine, following a 16-year tenure at Genzyme Genetics. Dr. Lamb is a founding fellow of the American College of Medical Genetics and is certified by the American Board of Medical Genetics in clinical cytogenetics and clinical molecular genetics. Dr. Lamb received his Ph.D. in Molecular Biology and Biochemistry from Wesleyan University and completed his postgraduate training at the University of North Carolina and Harvard Medical School.
"Dr. Lamb is highly respected in the field of cytogenetics and brings to Signature many years of experience," said Lisa G. Shaffer, Ph.D., President and CEO of Signature. "The addition of Dr. Lamb ensures our team of board-certified laboratory directors will be able to meet the growing diagnostic demands of our company."
Dr. Lamb joins Signature Laboratory Directors Beth Torchia, Ph.D., Roger Schultz, Ph.D., Gail Wenger, Ph.D., Trilochan Sahoo, M.D., and Julie Biggerstaff, Ph.D..