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Genetics

Molecular cytogenetics and genomic analysis are now integral diagnostic and prognostic tools in various branches of medicine (e.g. obstetrics/gynecology, pediatrics, cardiology, neurology, internal medicine, hematology and oncology). The Molecular Cytogenetics Laboratory at Yale University School of Medicine provides a resource for clinicians and researchers from Yale and beyond for gene mapping, ordering of probes along chromosomes, somatic cell studies, and many areas of genetic research.

Yale Clinical Cytogenetics Lab also serves as a core facility of cytogenomic analysis for institutional researchers. Our services include routine chromosome karyotyping, fluorescence in situ hybridization (FISH), and chromosome microarray analysis (CMA). Types of specimens processed include blood, amniotic fluid, chorionic villus, products of conception, bone marrow, skin and solid tumor samples from clinicians as well as various cell lines and tissues from researchers.

Learn more about the Yale Cytogenetics Laboratory in our {link to the modal Cytogenetics FAQ: list of Frequently Asked Questions}.

Testing

The Yale University Cytogenetics Laboratory is a CAP and CLIA certified laboratory, providing an array of testing services. Our services include routine chromosome karyotyping, fluorescence in situ hybridization (FISH) and advanced chromosomal microarray diagnostics.

Types of specimens processed include blood, amniotic fluid, chorionic villus, products of conception, bone marrow, skin and solid tumor samples from clinicians as well as various cell lines and tissues from researchers. We provide state-of-the-art services with fast turnaround time and competitive prices.

We offer the following tests:

To request a test, please place the appropriate order in EPIC. For non-Yale providers, please use the applicable form below.

  • Cancer Cytogenomics Requisition (link to FORM4010B_May 2021.pdf]
  • Constitutional Cytogenomics Requisition (link to FORM4010A_May 2021.pdf]
  • Specimen requirement/submission guidelines (link to FORM4100_2021.pdf)
  • Products of Conception collection

Billing

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Resources

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