Cytogenetic & molecular diagnostics


The division of cytogenetics and molecular pathology at North Shore-LIJ provides comprehensive cytogenetic analysis and fluorescence in-situ hybridization assays for genetic and neoplastic disorders. The specimens processed include amniotic fluid, chorionic villi, products of conception, peripheral blood, leukemic blood, bone marrow, and solid neoplasms.

The molecular genetics laboratory provides testing based on nucleic acid analysis in the genetics and oncology areas. Testing includes mutation analysis for common diseases, population screening for cystic fibrosis, clonality studies in lymphomas, and translocation detection in leukemias and lymphomas. 


The cytogentics and molecular pathology division consists of an integrated cytogenetics lab and a molecular genetics laboratory. Both labs are accredited by the clinical laboratory improvement amendments and participate in the New York state and CAP proficiency testing programs for cytogenetics FISH and molecular genetics.

The division performs more than 27,000 cytogenetics/FISH and molecular tests annually. Our labs are equipped with state-of-the-art technologies to provide the highest quality results. 


Silvia Spitzer, Ph.D., Chief of Molecular Pathology, is board-certified in molecular diagnostics and has 15 years of experience in the areas of hematopathology, genetics and microbiology. Her work has been published in journals and presented in national meetings. She also gives workshops in this field.

Jordan Seth Laser, MD

  • Senior Director - Cytogenetics & Molecular Pathology of Pathology and Laboratory Medicine, Long Island Jewish Medical Center
  • Senior Director - Cytogentetics and Molecular Pathology of Pathology and Laboratory Medicine, North Shore University Hospital
  • Assistant Professor, Hofstra North Shore-LIJ School of Medicine
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Oana Elena Vele, MD

Timely results

Results from the cytogenetics laboratory can generally be supplied in 3-5 days after receiving the samples for FISH and in less than two weeks for metaphase cytogenetics. Turnaround time for testing depends on the type of test that is performed. The molecular diagnostics laboratory can usually provide results for simple PCR testing in 3-5 days after the sample is received and in less than two weeks for more complex analyses.


The cytogenetics laboratory offers conventional cytogenetic and FISH analysis of the following specimens:

  • Peripheral blood
  • Amniotic fluid
  • Chorion villi
  • Products of conception
  • Fetal tissue
  • Skin fibroblasts
  • Bone marrow
  • Leukemic blood
  • Malignant tissue

Molecular cytogenetic testing includes FISH analysis of:

  • Prenatal specimens
  • Peripheral blood or tissue for constitutional disorders and bone marrow
  • Leukemic blood or solid tumor for oncology specimens

The molecular diagnostics laboratory evaluates inherited disorders, leukemias and lymphomas utilizing state-of-the-art technologies and procedures. It offers testing for cystic fibrosis, factor V leiden, factor II mutation, JAK-2 quantification, T- & B-cell receptor/gene rearrangement and t(9;22) translocation among other assays. We currently use real time PCR, DNA hybridization, capillary electrophoresis and microfluidics to screen, diagnose and monitor cancer patients. Additional tests are in development to better serve our patients.