Overview

Our laboratory has been dedicated to providing the medical genetics community with high quality comprehensive clinical genetic diagnostic services for over 40 years. By building on our institution’s strengths in research and discovery, our mission is to provide quality genetic testing services relevant to twenty-first century precision medicine. Our lab has been at the forefront of introducing novel genetic testing modalities that have provided more tools to diagnose patients with genetic disorders. The innovative testing approaches developed at our lab include Chromosomal Microarray Analysis (CMA), whole exome sequencing, universal carrier screening, and metabolomics. In addition, we offer comprehensive services in all areas of genetic testing including cytogenetics, biochemical genetics, cancer genetics, mitochrondrial genetic testing, and next generation sequencing panels. Through our collaboration with the Human Genome Sequencing Center at Baylor, we were one of the first labs to offer whole exome sequencing on a clinical basis and have now performed over 6500 clinical exome tests. Our lab is well-equipped with cutting edge diagnostic equipment, allowing it to efficiently generate the most accurate clinical genetic data.

Our mission with the UDN is to assist the investigators in discovering patient diagnoses by providing high quality and rapid DNA sequencing data that is clinically interpreted by our expert team. In addition, the sequence data is returned to the investigators so they can perform additional analyses and bring all the resources of the network together to provide answers to families.

Website

https://www.bcm.edu/research/medical-genetics-labs/

News

Baylor College of Medicine, Medical College of Wisconsin to conduct DNA sequencing for Undiagnosed Diseases Network
September 29, 2014
National Human Genome Research Institute

Human genetics test shows promising results
October 2, 2013
Houston Chronicle

Grant

1U01HG007942-01