Center for Clinical Genetics
The Center for Clinical Genetics and Genomics(CCGG) is a preeminent hub for genetic diagnosis, treatment, counseling and testing, and spans pre-conception, pre-implantation, prenatal, neonatal, cancer, pediatric and adult conditions. The Center is engaged in cutting edge clinical trials to treat individuals with genetic diseases, discover genetic causes of undiagnosed diseases, understand mechanisms of disease and the ethics of genomic testing, and provide the most comprehensive diagnostic tools to the clinic and bedside.
Center for Clinical Genetics and Genomics
The Center for Clinical Genetics and Genomics (CCGG) spans genomic patient care, research, and education across UPMC. The Center’s main clinical, teaching and research activities occur at the Children’s Hospital of Pittsburgh, Department of Human Genetics in the School of Public Health, and Magee Women’s Hospital. CCGG provides cutting-edge genetic and genomic diagnoses thru the Pittsburgh Clinical Genomics Laboratory, Pittsburgh Cytogenetics Laboratory, Pregnancy Screening Laboratory, and Clinical Biochemical Genetics Laboratory. The Center is a point of training for future health care providers in genomic medicine, future laboratory directors to interpret genomic data, and future directors of omics data such as metabolomics. CCGG is engaged in cutting edge clinical trials to treat individuals with genetic diseases, to discover genetic causes of undiagnosed diseases, to understand mechanisms of disease and ethics of genomic testing, and to provide the most comprehensive diagnostic tools to the clinic and bedside.
Clinical Genomics Case Conference
A heterozygous deletion of the short arm of chromosome 9 and a homozygous deletion of CDKN2A and CDKN2B genes revealed by microarray analysis on a bone marrow specimen from a patient with childhood acute lymphoblastic leukemia (ALL)
Her 2 Gene
Amplification of human epidermal growth factor receptor-2/neu (Her-2) gene in a breast cancer specimen detected by fluorescence in situ hybridization analysis.
Prenatal Ultrasound of Fetal Profile
Ultrasound allows for assessment of fetal anatomy and functions as a part of prenatal genetic assessment.