David Bick, MD
Professor, Pediatrics (Genetics)
Specialization: Human Clinical Genetics
The laboratory carries out deletion/duplication testing in patients with neurocognitive disabilities and birth defect in conjunction with Dr. Uli Broeckel's laboratory and whole genome sequencing in conjunction with Dr. David Dimmock’s laboratory.
Neurocognitive disabilities (learning disabilities and mental retardation) and birth defect can be the result of small chromosomal aberrations (duplication and deletions). It is now known that 10-20% of patients with mental retardation/developmental delay (MR/DD) and/or dysmorphology have small duplication and deletions that are undetectable by routine chromosome analysis. A comprehensive duplication/deletion testing format that covers the entire genome (Affymetrix® Genome-Wide Human SNP Array 6.0) is now in use in the laboratory to identify these anomalies in patients enrolled in a research study of neurodevelopmental disabilities. We have also developed this assay to test patient samples from Children’s Hospital of Wisconsin. This clinical testing is performed in the Advanced Genomics (AGEN) Laboratory in the Children’s Research Institute and is a College of American Pathologists (CAP) certified laboratory.
A new technology referred to as "next-generation" sequencing permits scientists to determine the sequence of the entire human genome. Our laboratory now offers a test that uses this technology to determine the sequence of the entire human genome for use by physicians in standard clinical practice. This test is the most comprehensive genetic test available for patients with undiagnosed genetic disorders. It is of enormous importance to families and physicians who have undertaken years of costly testing without success in these patients. This clinical testing is performed in the Advanced Genomics (AGEN) Sequencing Laboratory in the Children’s Research Institute and is a College of American Pathologists (CAP) certified laboratory.