Our laboratory is staffed by American Board of Medical Genetics and Genomics (ABMGG) certified MDs and PhDs and highly skilled cytogenetic technologists who are certified by the American Society of Clinical Pathologists (ASCP) Board of Registry (BOR) as specialists in cytogenetics and molecular biology. Using both traditional cytogenetic techniques as well as molecular cytogenetics by fluorescence in situ hybridization (FISH) and genome-wide array comparative genomic hybridization (aCGH), the UPMC Cytogenetic Laboratory (UCL) performs state-of-the-art cytogenetic studies on a wide variety of specimens, giving our referring physicians the best opportunity to get the answers they need. The UCL is also a Children’s Oncology Group (COG) approved full-service facility.
Our team of detail-oriented technologists and ABGC board-certified and licensed genetic counselor at the UPMC Pregnancy Screening Laboratory (UPSL) offer state-of-the-art testing for identifying pregnancies at increased risk for chromosome conditions such as Down syndrome (trisomy 21) or trisomy 18, and open neural tube defects, such as spina bifida or anencephaly. The UPSL offers screening tests in both the first and second trimester of pregnancy. Our experienced staff takes great care in interpreting the results of testing and communicating these results to the referring physician. In the event of a positive screening test, our clinical genetic counselors are available to discuss the decision to have further testing with the patient and their partner.
The UCGL is staffed by American Board of Medical Genetics and Genomics (ABMGG) certified MDs and PhDs as well as experienced technologists who are certified by the American Society of Clinical Pathologists (ASCP) Board of Registry (BOR). Whether it is testing in pregnancy for cystic fibrosis or spinal muscular atrophy (SMA), pharmacogenetics testing for Clopidogrel (Plavix) for patients undergoing a cardiac catheterization procedure, or disease-based gene panels for family or medical history of breast/ovarian cancer, the UCGL is prepared to meet our patients’ needs. The primary focus of the UCGL is working with healthcare providers and researchers to develop molecular tests that improve patient care and to translate new discoveries into clinical practice. Our team of scientists and technologists is actively validating new tests to serve our patient population including Whole Exome Sequencing (WES) analysis using next generation sequencing (NGS).