The Clinical Cytogenetics Laboratory

The Clinical Cytogenetics Laboratory at Georgetown has an almost 30 year history of providing diagnostic chromosome testing. It is a full service cytogenetic laboratory performing constitutional chromosome analysis in prenatal cases, as well as on newborns and adults. Furthermore, this CLIA approved laboratory also performs cytogenetic analysis on bone marrow samples and tumors from cancer patients to look for acquired chromosomal changes.

Specimen types for chromosome analysis include:

•Amniotic fluid
•Chorionic villus samples
•Blood
•Lymphoblastoid cells
•Bone marrow
•Skin
•Products of conception
•Tumors

Both classical and molecular cytogenetic testing is available. Classical cytogenetic testing consists of G-band analysis of chromosomes for a whole genome screen for numerical and structural abnormalities. Molecular cytogenetic testing consists of fluorescence in situ hybridization (FISH) for the purpose of diagnosis of microdeletion syndromes, cancer translocations, aneuploidy, and marker chromosome identification.

Clinical Cytogenetics Lab Director

The laboratory is directed by Jeanne M. Meck, PhD, a clinical cytogeneticist and diplomate of the American Board of Medical Genetics. Dr. Meck was trained in cytogenetics at the University of Miami School of Medicine. She joined the faculty at Georgetown University in 1985 as the Director of the Cytogenetics Laboratory. Currently, Dr. Meck is also Chief of the Division of Genetics in the Department of ObGyn as well as Director of the Cytogenetics portion of the Metropolitan Washington Training Program for Genetics Residents and Fellows in cooperation with the NIH.

For more information regarding clinical cytogenetic testing please contact us at (202) 687-8625 or meckj@georgetown.edu.

Cytogenetic Shared Resource

Jan Blancato, PhD, FACMG, is Director of the Cytogenetic Shared Resource Laboratory at Lombardi Comprehensive Cancer Center. The Cytogenetics Laboratory offers CLIA-approved FISH testing for two rare microdeletion syndromes, Grieg Cephalosyndactyly, and Smith Magenis Syndrome. The Smith Magenis analysis uses the approved RA-1 gene probe that has recently been identified as the most sensitive probe for the critical region in 17p11.2 (Vlangos CN, et al., Am J Med Genet A, 2005).

The Lab is equipped to develop and validate other FISH diagnostic tests. To download the FISH request form, click here.

For more information regarding the Cytogenetics Shared Resource Laboratory, visit their web page, or contact Dr. Blancato at (202) 444-1536 or blancatj@georgetown.edu.