CYTOGENETICS LABORATORY
The full-service cytogenetics laboratory of the Harvey Institute examines human chromosomes for numerical and structural abnormalities associated with a variety of conditions occurring at all stages of life:
- prenatal diagnosis
- congenital malformations
- dysmorphology syndromes
- chromosome instability syndromes
- mental and/or motor retardation
- infertility and sterility
- cancer and hematologic neoplasia
The lab is under the direction of Maimon M. Cohen, Ph.D., Director of the Harvey Institute. The staff includes 3 American Board of Medical Genetics-certified clinical cytogeneticists, 3 American Board of Genetic Counseling-certified genetic counselors and 6 Association of Genetic Technologists-certified technologists.
The lab processes more than 1,000 specimens per year, using state-of-the-art techniques including molecular approaches for the interpretation of abnormal karyotypes. Routine chromosome banding techniques, such as extended and/or multiple staining procedures, may not be sufficient for complete characterization of specimens with complex abnormalities. In such cases, the lab offers comprehensive molecular specimen evaluation including fluorescence in situ hybridization (FISH) techniques employing appropriate DNA probes for the elucidation of chromosomal anomalies. Additional specialized analyses, including chromosomal breakage studies, are also available.
Each sample analyzed is reviewed by a Board-certified clinical cytogeneticist and the final report includes a karyotype and detailed description of the cytogenetic observation, interpretation and clinical significance of the finding.
Turn-Around Times and Success Rates
Specimen Type | Turn-Around Time | 3-Year Success Rate |
Amniotic fluid | 7-10 days | 99.9% |
Chorionic villi | 7-12 days | 99.0% |
Bone marrow | 4-7 days | 96.0% |
Peripheral blood | 5-7 days | 99.7% |
Products of conception | 7-12 days | 95.0% |
The cytogenetics lab is accredited and licensed by the College of American Pathologists (CAP), CLIA, and the State of Maryland Laboratory Administration. CAP laboratory inspections occur annually, either by self-inspection or external review. The laboratory participates in the CAP Quality Control/Proficiency Testing Program.
Information on other genetic testing to which patients have access through the Harvey Institute can be found here.
Material published on this web site is for informational purposes only. Readers are encouraged to confirm the information contained herein with other sources. Patients and consumers should review the information carefully with their professional healthcare provider. The information is not intended to replace medical advice offered by physicians. |