The Clinical Cytogenetics Laboratory provides a full range of cytogenetic and fluorescent in situ hybridization (FISH) diagnostic testing for congenital disorders, mental retardation, pre-natal and pre-implantation testing, leukemia, lymphoma and solid tumors.  Uniquely, in addition definitive DNA testing for Fragile X mental retardation or carrier status and Prader-Willi/Angelman syndrome are both performed on-site by methylation analysis.  Testing is performed on a variety of tissues as appropriate: peripheral blood, product of conception, skin, amniotic fluid, chorionic villus, bone marrow, lymph node, solid tumor, paraffin-embedded tissue, urine and blastomere nuclei.

The Lab remains one of the first group of about 30 national and international laboratories approved by the Pediatric (now Children’s) Oncology Group (COG) to determine the cytogenetic status of pediatric leukemic patients as one of the crucial components of diagnostic and prognostic testing. It is one of a handful of laboratories nationwide to perform aneuploidy testing on pre-implantation embryos following in vitro fertilization in infertile couples.   In 2002, it was chosen by the College of American Pathologists to be a referee lab for Proficiency Testing in Cytogenetics.

The Cytogenetics Laboratory Director regularly meets and consults with Hematopathologists and Hematologists, Surgical Pathologists, Pathology Residents and Fellows, Clinical Geneticists and Genetic Counselors and Reproductive Medicine staff at MCW.   Residents rotating for a month process their own tissue and perform chromosome analysis to become familiar with the range of procedures and techniques.  This culminates in karyotyping with a digital imaging system.  Weekly rounds are attended in Hematopathology and in Reproductive Medicine, monthly in Clinical Genetics wherein abnormal cytogenetics results are presented and discussed with the Clinical Genetics/Counseling group at Children’s Hospital.   In a week-long stint in the first year and again in the fourth year Molecular rotation, the Resident performs a batched assay for Fragile X or Prader-Will/Angelman by DNA analysis.