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Susan Mathew, PhD, Director, Cytogenetics

The Cytogenetics Laboratory at NewYork Presbyterian/Weill Cornell Medicine is an actively expanding diagnostic laboratory which processes annually about 4,500 samples / 10,500 tests including prenatal and postnatal samples as well as cancer specimens.  The laboratory does cytogenetic analyses and fluorescence in situ hybridization (FISH) assays. The laboratory is in the process of expanding and introducing microarray testing on prenatal /postnatal samples. 

We offer conventional cytogenetics/molecular cytogenetic services for the following types of samples:

  • Amniotic fluid
  • Chorionic villi
  • Products of conception
  • Tissue biopsy
  • Blood
  • Bone marrow/peripheral blood
  • Lymphoid tissues
  • Solid tumors

We offer the following tests:

  • Conventional banding techniques (G banding, C banding and NOR staining) to identify chromosomes.
  • High resolution banding to evaluate small deletions and translocations
  • FISH assays to detect trisomy 13, trisomy 18, trisomy 21, and aneuploidy of X and Y chromosomes in prenatal samples (amniotic fluid and chorionic villi samples).
  • FISH assays for microdeletion syndromes (Prader-Willi/Angelman, DiGeorge, Miller-Dieker, Smith-Magenis, Williams syndromes)
  • FISH assays for the detection of translocations, deletions, and duplications in bone marrow aspirates/paraffin sections from patients with leukemia, lymphoma and other hematological disorders.
  • HER2/neu FISH test on paraffin sections from breast cancer patients
  • ALK FISH test on paraffin sections from non-small cell lung cancer patients

Weill Cornell Medicine Pathology & Laboratory Medicine 1300 York Avenue New York, NY 10065 Phone: (212) 746-6464 Fax: (212) 746-8192