The Clinical Cytogenetics Laboratory at Duke University Health Systems is a modern facility engaged in service, teaching and test development.

The laboratory maintains a broad profile of service: prenatal testing, postnatal constitutional analysis and testing for acquired abnormalities (neoplasia). We provide a comprehensive, integrated approach to cytogenetic and molecular testing, both diagnostic and prognostic, that focuses on individualized patient care and service to our clinician clients.

The laboratory performs chromosome analysis and targeted molecular cytogenetic testing on a full range of samples, both neoplastic and constitutional. Sample types include peripheral blood, bone marrow, amniotic fluid, products of conception, skin, solid tumors and others as needed. A comprehensive menu of molecular cytogenetic tests using fluorescence in situ hybridization (FISH) is available for both metaphase and interphase analysis including panels of probes for pediatric ALL, AML, CLL, MDS, and multiple myeloma (as applied to isolated plasma cells). Chromosomal microarray testing is performed for constitutional abnormalities and acquired abnormalities in peripheral blood, bone marrow, products of conception, and formalin-fixed paraffin embedded tissue. .

The Director of the laboratory, Catherine W. Rehder, PhD, FACMG, and the Associate Director, Kristen L. Deak, PhD, FACMG, are certified by the American Board of Medical Genetics (ABMGG) in both Clinical Cytogenetics and Clinical Molecular Genetics. Dr. Stefan Rentas, PhD, FACMG, Assistant Director, is certified in Laboratory Genetics and Genomics by the ABMGG. The directors have particular interest in education, the development of genomic microarray testing in the prenatal and neoplastic settings, and the rapidly developing field of next generation sequencing.

Laboratory Telephone: (919) 684-6426
Fax: (919) 681-7072