Cytogenetics

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 in peripheral blood and products of conception samples. Applying this technology to neoplastic samples is an area of current development.

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 (ABMG) in both Clinical Cytogenetics and Clinical Molecular Genetics. Dr. Sarah R. Horn, Assistant Director, is ABMG eligible in Clinical Cytogenetics. 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

Catherine W. Rehder, PhD, FACMG, Kristen L. Deak, PhD, FACMG, Sarah R. Horn, PhD
Faculty
Catherine W. Rehder, PhD, FACMG

Catherine W. Rehder, PhD, FACMG

Director

4425 Ben Franklin Blvd

Durham, NC 27704

Phone: (919) 613-8434

Email

Kristen L. Deak, PhD, FACMG

Kristen L. Deak, PhD, FACMG

Associate Director

4425 Ben Franklin Blvd

Durham, NC 27704

Phone: (919) 684-1014

Email

Sarah R. Horn, PhD

Sarah R. Horn, PhD

Assistant Director

4425 Ben Franklin Blvd

Durham, NC 27704

Phone: (919) 613-3783

Email