Clinical Molecular Genetics Laboratory Facility
- Karen Gustafson, MD, PhD
- Betsy Bove, PhD
- Kimberly Cattie, BS, MT, Scientific Technician II
- Frank Zambito, BA, Research Specialist
- West W232
The Clinical Molecular Genetics Laboratory (CMGL) was initially established for the purpose of performing the mutational analysis of genes (e.g., BRCA1 and BRCA2), which are involved in hereditary forms of breast and ovarian cancer. The laboratory now performs clinical mutational analysis on lung, colon, and gastrointestinal tumors, to name a few, on a wide variety of genes and non-coding and regulatory regions of the human genome. The population of individuals undergoing diagnostic testing have been gathered through various high-risk screening clinics including the Family Risk Assessment Program, the Prostate Risk Assessment Program, and the Gastrointestinal Tumor Risk Assessment Program. Blood samples are collected through these high-risk clinics and processed in the Biospecimen Repository Core Facility (BRCF). DNA samples from individuals seeking genetic testing are then screened for mutations in designated genes in the CMGL using several highly-sensitive molecular strategies. An enzyme mutation detection assay has been developed and optimized for the detection of DNA mismatches, insertions, and deletions within the coding regions of genes of interest. Other molecular techniques, including the heteroduplex mobility assay (HMA), and direct sequencing, are used to screen for common mutations and/or to confirm known mutations within other family members. A technician performs the molecular testing on DNA samples, and mutational analyses are reviewed by Dr. Karen Gustafson (Director, CMGL) and Dr. Betsy Bove (Laboratory Manager).
The Clinical Molecular Genetics Laboratory was established in 1996. The following molecular genetic tests are available for both clinical and research purposes:
- Ashkenazi Jewish founder panel
- BRCA1 (known mutation)
- BRCA2 (known mutation)
- EGFR (exons 18-21)
- UGT1A1 *28
- cKIT/PDGFRA (exons 9, 11, 13, 17/exons 12, 18)
- KRAS (codons 12 and 13)
- BRAF (codon 600)
- T cell gene re-arrangement (TCR/T)
- B cell gene re-arrangement (IGH/B)
The specific BRCA1 or BRCA2 mutation must be submitted to the CMGL laboratory in writing.
The laboratory is CLIA/CAP approved and is fully equipped for clinical testing using the above described molecular techniques. Laboratory technicians are trained, qualified, and experienced to perform mutational analysis under the direction of Drs. K. Gustafson and B. Bove. To inquire about mutational detection and analysis through a research protocol or by insurance supported clinical analysis, please call Dr. Betsy Bove at 215-728-4785.