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Cytogenetics

About Our Service

Our Cytogenetics Laboratory performs over 4,000 tests annually using a full range of molecular cytogenetic testing methodologies. The laboratory performs Chromosome Analysis that includes both neoplastic studies and constitutional studies for prenatal, pediatric and recurrent pregnancy loss. Preliminary oncology results are generally available within 24 hours.

Tests include an extensive Fluorescence In Situ Hybridization (FISH) probe menu, including probe panels for specific neoplasms. Results for PML/RARA are available within four and a half hours. In addition, whole-genome array-based Comparative Genomic Hybridization (CGH) is performed using high-resolution CGH SNP Microarray technology designed to detect genome-wide copy number variations and copy-neutral absence of heterozygosity (AOH) in children. This array contains 108,000 oligo copy number probes which cover every region of the human genome known to be involved in cytogenetic abnormalities, including over 255 recognized genetic syndromes, and over 980 gene regions of functional significance in human development.

We are one of the select laboratories nationally that have been approved to perform chromosome analysis and FISH for the Children’s Oncology Group (COG) and the Southwest Regional Oncology Group (SWOG). The lab participates in clinical research studies, such as the Multiple Myeloma Research Foundation COMMPASS research study, as well as reproducibility studies for major manufacturers.